Canonical Allele Identifier: CA408084580

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3208911G>T (hg19) ; chr20:g.3228265G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228265G>T , CM000682.2:g.3228265G>T	GRCh38
NC_000020.10:g.3208911G>T , CM000682.1:g.3208911G>T	GRCh37
NC_000020.9:g.3156911G>T	NCBI36
NG_017072.1:g.15977C>A
NG_012093.2:g.24399G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2552C>A MANE Select	ENSP00000493503.1:p.Pro851His
ENST00000644011.1:c.2483C>A	ENSP00000496214.1:p.Pro828His
ENST00000644692.1:c.2351C>A	ENSP00000493824.1:p.Pro784His
ENST00000647296.1:c.2438C>A	ENSP00000495050.1:p.Pro813His
ENST00000380056.7:c.2600C>A	ENSP00000369396.3:p.Pro867His
ENST00000380059.7:c.2681C>A	ENSP00000369399.3:p.Pro894His
ENST00000474451.5:c.*700C>A	ENSP00000476859.1:n.*700C>A
ENST00000539553.6:c.2552C>A	ENSP00000441370.1:p.Pro851His
NM_001174089.1:c.2552C>A	NP_001167560.1:p.Pro851His
NM_001174090.1:c.2681C>A	NP_001167561.1:p.Pro894His
NM_032034.3:c.2600C>A	NP_114423.1:p.Pro867His
XM_005260856.3:c.2921C>A	XP_005260913.1:p.Pro974His
XM_005260857.1:c.2495C>A	XP_005260914.1:p.Pro832His
XM_011529383.1:c.2519C>A	XP_011527685.1:p.Pro840His
XM_011529384.1:c.2495C>A	XP_011527686.1:p.Pro832His
XM_011529385.1:c.2495C>A	XP_011527687.1:p.Pro832His
XR_937167.1:n.2650C>A
NM_001363745.1:c.2438C>A	NP_001350674.1:p.Pro813His
NR_135000.1:n.2650C>A
XM_005260856.5:c.2921C>A	XP_005260913.1:p.Pro974His
XM_011529383.3:c.2519C>A	XP_011527685.1:p.Pro840His
XM_017028093.1:c.2915C>A	XP_016883582.1:p.Pro972His
XM_017028094.1:c.2495C>A	XP_016883583.1:p.Pro832His
XM_017028096.1:c.2495C>A	XP_016883585.1:p.Pro832His
XR_001754419.1:n.3095C>A
XR_001754420.2:n.3075C>A
NM_001174089.2:c.2552C>A MANE Select	NP_001167560.1:p.Pro851His
NM_001363745.2:c.2438C>A	NP_001350674.1:p.Pro813His
NM_001174090.2:c.2681C>A	NP_001167561.1:p.Pro894His
NM_032034.4:c.2600C>A	NP_114423.1:p.Pro867His
NM_001400277.1:c.2495C>A	NP_001387206.1:p.Pro832His
NM_001400278.1:c.2495C>A	NP_001387207.1:p.Pro832His
NM_001400279.1:c.2495C>A	NP_001387208.1:p.Pro832His
NM_001400280.1:c.2567C>A	NP_001387209.1:p.Pro856His
NR_174470.1:n.3075C>A
NR_174471.1:n.3060C>A