Canonical Allele Identifier: CA236759694

Gene: CERS5

Linked Data

• dbSNP Id: rs914225153
• gnomAD v2: 12-50546200-A-G
• gnomAD v3: 12-50152417-A-G
• gnomAD v4: 12-50152417-A-G
• MyVariant Identifiers: chr12:g.50546200A>G (hg19) ; chr12:g.50152417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50152417A>G , CM000674.2:g.50152417A>G	GRCh38
NC_000012.11:g.50546200A>G , CM000674.1:g.50546200A>G	GRCh37
NC_000012.10:g.48832467A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317551.12:c.198-8360T>C MANE Select	ENSP00000325485.6:n.198-8360T>C
ENST00000317551.10:c.198-8360T>C	ENSP00000325485.6:n.198-8360T>C
ENST00000380189.8:c.198-8360T>C	ENSP00000369536.4:n.198-8360T>C
ENST00000422340.6:c.-178-7448T>C	ENSP00000389050.2:n.-178-7448T>C
ENST00000438450.6:c.198-9213T>C	ENSP00000407896.2:n.198-9213T>C
ENST00000542320.5:c.198-8360T>C	ENSP00000442918.1:n.198-8360T>C
ENST00000546514.1:c.198-3829T>C	ENSP00000446931.1:n.198-3829T>C
ENST00000547455.5:c.*38+1412T>C	ENSP00000448257.1:n.*38+1412T>C
ENST00000547787.5:c.198-7448T>C	ENSP00000447410.1:n.198-7448T>C
ENST00000547800.2:c.198-8360T>C	ENSP00000448295.2:n.198-8360T>C
ENST00000549389.5:c.*8+1811T>C	ENSP00000448755.1:n.*8+1811T>C
ENST00000549942.1:n.406-5014T>C
ENST00000550258.5:c.*119-8360T>C	ENSP00000446937.1:n.*119-8360T>C
ENST00000550899.1:c.198-7356T>C	ENSP00000450072.1:n.198-7356T>C
ENST00000551697.5:c.198-8360T>C	ENSP00000448794.1:n.198-8360T>C
NM_001281731.1:c.-178-7448T>C	NP_001268660.1:n.-178-7448T>C
NM_147190.3:c.198-8360T>C	NP_671723.1:n.198-8360T>C
NR_104035.1:n.434-8360T>C
XM_005269220.1:c.198-8360T>C	XP_005269277.1:n.198-8360T>C
XM_006719687.2:c.198-8360T>C	XP_006719750.1:n.198-8360T>C
XM_011538975.1:c.198-8360T>C	XP_011537277.1:n.198-8360T>C
XR_245982.2:n.269+8726A>G
XR_429120.1:n.272-8360T>C
NM_001331069.1:c.-178-7448T>C	NP_001317998.1:n.-178-7448T>C
NM_001331070.1:c.198-8360T>C	NP_001317999.1:n.198-8360T>C
NM_001331071.1:c.198-8360T>C	NP_001318000.1:n.198-8360T>C
NM_001331072.1:c.-397-8053T>C	NP_001318001.1:n.-397-8053T>C
NM_001331073.1:c.-397-8053T>C	NP_001318002.1:n.-397-8053T>C
NR_138532.1:n.434-8360T>C
NR_138533.1:n.434-8360T>C
NR_138534.1:n.434-8360T>C
NR_138535.1:n.434-8053T>C
NR_138536.1:n.434-8053T>C
XM_005269220.2:c.198-8360T>C	XP_005269277.1:n.198-8360T>C
XM_017020204.2:c.198-8360T>C	XP_016875693.1:n.198-8360T>C
XM_024449271.1:c.-178-7448T>C	XP_024305039.1:n.-178-7448T>C
XM_024449272.1:c.-522-7448T>C	XP_024305040.1:n.-522-7448T>C
XR_001748920.2:n.272-8360T>C
XR_001748921.1:n.272-8360T>C
XR_002957387.1:n.270-7448T>C
XR_002957388.1:n.263-7448T>C
XR_429120.3:n.272-8360T>C
NM_001331069.2:c.-178-7448T>C	NP_001317998.1:n.-178-7448T>C
NM_001331070.2:c.198-8360T>C	NP_001317999.1:n.198-8360T>C
NM_001331071.2:c.198-8360T>C	NP_001318000.1:n.198-8360T>C
NM_001331072.2:c.-397-8053T>C	NP_001318001.1:n.-397-8053T>C
NM_001331073.2:c.-397-8053T>C	NP_001318002.1:n.-397-8053T>C
NM_147190.5:c.198-8360T>C MANE Select	NP_671723.1:n.198-8360T>C
NR_104035.2:n.270-8360T>C
NR_138532.2:n.270-8360T>C
NR_138533.2:n.270-8360T>C
NR_138534.2:n.270-8360T>C
NR_138535.2:n.270-8053T>C
NR_138536.2:n.270-8053T>C
NM_001281731.2:c.-178-7448T>C	NP_001268660.1:n.-178-7448T>C
NM_001331069.3:c.-178-7448T>C	NP_001317998.1:n.-178-7448T>C
NM_001331070.3:c.198-8360T>C	NP_001317999.1:n.198-8360T>C
NM_001331071.3:c.198-8360T>C	NP_001318000.1:n.198-8360T>C
NM_001331072.3:c.-397-8053T>C	NP_001318001.1:n.-397-8053T>C
NM_001331073.3:c.-397-8053T>C	NP_001318002.1:n.-397-8053T>C
NR_104035.3:n.270-8360T>C
NR_138532.3:n.270-8360T>C
NR_138533.3:n.270-8360T>C
NR_138534.3:n.270-8360T>C
NR_138535.3:n.270-8053T>C
NR_138536.3:n.270-8053T>C