Canonical Allele Identifier: CA6650169

Gene: MARS1

Linked Data

• ClinVar Variation Id: 1896869
• ClinVar RCV Id: RCV002571924 ; RCV003491123
• dbSNP Id: rs779181351
• ExAC: 12:57883666 A / G
• gnomAD v2: 12-57883666-A-G
• gnomAD v4: 12-57489883-A-G
• MyVariant Identifiers: chr12:g.57883666A>G (hg19) ; chr12:g.57489883A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489883A>G , CM000674.2:g.57489883A>G	GRCh38
NC_000012.11:g.57883666A>G , CM000674.1:g.57883666A>G	GRCh37
NC_000012.10:g.56169933A>G	NCBI36
NG_034077.1:g.6931A>G
NG_023205.2:g.3932T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.415-13A>G MANE Select	ENSP00000262027.5:n.415-13A>G
ENST00000262027.9:c.415-13A>G	ENSP00000262027.5:n.415-13A>G
ENST00000447721.6:n.133-324A>G
ENST00000537638.6:c.415-13A>G	ENSP00000446168.2:n.415-13A>G
ENST00000545888.6:c.415-324A>G	ENSP00000439307.2:n.415-324A>G
ENST00000547501.5:c.*51-13A>G	ENSP00000447145.1:n.*51-13A>G
ENST00000548674.5:n.385-324A>G
ENST00000549074.5:c.201-324A>G	ENSP00000447258.1:n.201-324A>G
ENST00000550449.5:n.528-13A>G
ENST00000551431.5:c.280-324A>G	ENSP00000446729.1:n.280-324A>G
ENST00000551892.1:c.110-395A>G	ENSP00000450018.1:n.110-395A>G
ENST00000552007.5:c.201-13A>G	ENSP00000448576.1:n.201-13A>G
ENST00000552371.1:c.30-13A>G
ENST00000553123.1:n.639-13A>G
ENST00000553162.5:n.438-13A>G
ENST00000628866.2:c.280-324A>G	ENSP00000486738.1:n.280-324A>G
ENST00000630571.2:c.201-13A>G	ENSP00000485951.1:n.201-13A>G
ENST00000630803.1:c.110-395A>G	ENSP00000486356.1:n.110-395A>G
NM_004990.3:c.415-13A>G	NP_004981.2:n.415-13A>G
XM_006719398.2:c.-212-324A>G	XP_006719461.1:n.-212-324A>G
XM_011538353.1:c.415-13A>G	XP_011536655.1:n.415-13A>G
XM_006719398.4:c.-212-324A>G	XP_006719461.1:n.-212-324A>G
XR_001748704.2:n.438-13A>G
XR_002957327.1:n.438-324A>G
NM_004990.4:c.415-13A>G MANE Select	NP_004981.2:n.415-13A>G