Canonical Allele Identifier: CA6650175

Gene: MARS1

Linked Data

• ClinVar Variation Id: 508936
• ClinVar RCV Id: RCV001174274 ; RCV001697533
• dbSNP Id: rs747351446
• ExAC: 12:57883674 C / A
• gnomAD v2: 12-57883674-C-A
• gnomAD v3: 12-57489891-C-A
• gnomAD v4: 12-57489891-C-A
• MyVariant Identifiers: chr12:g.57883674C>A (hg19) ; chr12:g.57489891C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489891C>A , CM000674.2:g.57489891C>A	GRCh38
NC_000012.11:g.57883674C>A , CM000674.1:g.57883674C>A	GRCh37
NC_000012.10:g.56169941C>A	NCBI36
NG_034077.1:g.6939C>A
NG_023205.2:g.3924G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.415-5C>A MANE Select	ENSP00000262027.5:n.415-5C>A
ENST00000262027.9:c.415-5C>A	ENSP00000262027.5:n.415-5C>A
ENST00000447721.6:n.133-316C>A
ENST00000537638.6:c.415-5C>A	ENSP00000446168.2:n.415-5C>A
ENST00000545888.6:c.415-316C>A	ENSP00000439307.2:n.415-316C>A
ENST00000547501.5:c.*51-5C>A	ENSP00000447145.1:n.*51-5C>A
ENST00000548674.5:n.385-316C>A
ENST00000549074.5:c.201-316C>A	ENSP00000447258.1:n.201-316C>A
ENST00000550449.5:n.528-5C>A
ENST00000551431.5:c.280-316C>A	ENSP00000446729.1:n.280-316C>A
ENST00000551892.1:c.110-387C>A	ENSP00000450018.1:n.110-387C>A
ENST00000552007.5:c.201-5C>A	ENSP00000448576.1:n.201-5C>A
ENST00000552371.1:c.30-5C>A
ENST00000553123.1:n.639-5C>A
ENST00000553162.5:n.438-5C>A
ENST00000628866.2:c.280-316C>A	ENSP00000486738.1:n.280-316C>A
ENST00000630571.2:c.201-5C>A	ENSP00000485951.1:n.201-5C>A
ENST00000630803.1:c.110-387C>A	ENSP00000486356.1:n.110-387C>A
NM_004990.3:c.415-5C>A	NP_004981.2:n.415-5C>A
XM_006719398.2:c.-212-316C>A	XP_006719461.1:n.-212-316C>A
XM_011538353.1:c.415-5C>A	XP_011536655.1:n.415-5C>A
XM_006719398.4:c.-212-316C>A	XP_006719461.1:n.-212-316C>A
XR_001748704.2:n.438-5C>A
XR_002957327.1:n.438-316C>A
NM_004990.4:c.415-5C>A MANE Select	NP_004981.2:n.415-5C>A