Canonical Allele Identifier: CA6650157

Gene: MARS1

Linked Data

• ClinVar Variation Id: 917133
• ClinVar RCV Id: RCV001173660 ; RCV002240748
• dbSNP Id: rs371003913
• ExAC: 12:57883349 G / A
• gnomAD v2: 12-57883349-G-A
• gnomAD v3: 12-57489566-G-A
• gnomAD v4: 12-57489566-G-A
• MyVariant Identifiers: chr12:g.57883349G>A (hg19) ; chr12:g.57489566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489566G>A , CM000674.2:g.57489566G>A	GRCh38
NC_000012.11:g.57883349G>A , CM000674.1:g.57883349G>A	GRCh37
NC_000012.10:g.56169616G>A	NCBI36
NG_034077.1:g.6614G>A
NG_023205.2:g.4249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.414+8G>A MANE Select	ENSP00000262027.5:n.414+8G>A
ENST00000262027.9:c.414+8G>A	ENSP00000262027.5:n.414+8G>A
ENST00000447721.6:n.133-641G>A
ENST00000537638.6:c.414+8G>A	ENSP00000446168.2:n.414+8G>A
ENST00000545888.6:c.414+8G>A	ENSP00000439307.2:n.414+8G>A
ENST00000547501.5:c.*50+8G>A	ENSP00000447145.1:n.*50+8G>A
ENST00000548674.5:n.384+8G>A
ENST00000548714.5:n.523G>A
ENST00000549074.5:c.200+457G>A	ENSP00000447258.1:n.200+457G>A
ENST00000550449.5:n.527+8G>A
ENST00000551431.5:c.279+221G>A	ENSP00000446729.1:n.279+221G>A
ENST00000551842.5:n.445G>A
ENST00000551892.1:c.110-712G>A	ENSP00000450018.1:n.110-712G>A
ENST00000552007.5:c.201-330G>A	ENSP00000448576.1:n.201-330G>A
ENST00000552371.1:c.29+8G>A
ENST00000553123.1:n.638+8G>A
ENST00000553162.5:n.437+8G>A
ENST00000628866.2:c.279+221G>A	ENSP00000486738.1:n.279+221G>A
ENST00000630571.2:c.201-330G>A	ENSP00000485951.1:n.201-330G>A
ENST00000630803.1:c.110-712G>A	ENSP00000486356.1:n.110-712G>A
NM_004990.3:c.414+8G>A	NP_004981.2:n.414+8G>A
XM_006719398.2:c.-213+8G>A	XP_006719461.1:n.-213+8G>A
XM_011538353.1:c.414+8G>A	XP_011536655.1:n.414+8G>A
XM_006719398.4:c.-213+8G>A	XP_006719461.1:n.-213+8G>A
XR_001748704.2:n.437+8G>A
XR_002957327.1:n.437+8G>A
NM_004990.4:c.414+8G>A MANE Select	NP_004981.2:n.414+8G>A