Canonical Allele Identifier: CA6650171

Gene: MARS1

Linked Data

• ClinVar Variation Id: 2167986
• ClinVar RCV Id: RCV003086725
• dbSNP Id: rs550918957
• ExAC: 12:57883670 C / T
• gnomAD v2: 12-57883670-C-T
• gnomAD v3: 12-57489887-C-T
• gnomAD v4: 12-57489887-C-T
• MyVariant Identifiers: chr12:g.57883670C>T (hg19) ; chr12:g.57489887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489887C>T , CM000674.2:g.57489887C>T	GRCh38
NC_000012.11:g.57883670C>T , CM000674.1:g.57883670C>T	GRCh37
NC_000012.10:g.56169937C>T	NCBI36
NG_034077.1:g.6935C>T
NG_023205.2:g.3928G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.415-9C>T MANE Select	ENSP00000262027.5:n.415-9C>T
ENST00000262027.9:c.415-9C>T	ENSP00000262027.5:n.415-9C>T
ENST00000447721.6:n.133-320C>T
ENST00000537638.6:c.415-9C>T	ENSP00000446168.2:n.415-9C>T
ENST00000545888.6:c.415-320C>T	ENSP00000439307.2:n.415-320C>T
ENST00000547501.5:c.*51-9C>T	ENSP00000447145.1:n.*51-9C>T
ENST00000548674.5:n.385-320C>T
ENST00000549074.5:c.201-320C>T	ENSP00000447258.1:n.201-320C>T
ENST00000550449.5:n.528-9C>T
ENST00000551431.5:c.280-320C>T	ENSP00000446729.1:n.280-320C>T
ENST00000551892.1:c.110-391C>T	ENSP00000450018.1:n.110-391C>T
ENST00000552007.5:c.201-9C>T	ENSP00000448576.1:n.201-9C>T
ENST00000552371.1:c.30-9C>T
ENST00000553123.1:n.639-9C>T
ENST00000553162.5:n.438-9C>T
ENST00000628866.2:c.280-320C>T	ENSP00000486738.1:n.280-320C>T
ENST00000630571.2:c.201-9C>T	ENSP00000485951.1:n.201-9C>T
ENST00000630803.1:c.110-391C>T	ENSP00000486356.1:n.110-391C>T
NM_004990.3:c.415-9C>T	NP_004981.2:n.415-9C>T
XM_006719398.2:c.-212-320C>T	XP_006719461.1:n.-212-320C>T
XM_011538353.1:c.415-9C>T	XP_011536655.1:n.415-9C>T
XM_006719398.4:c.-212-320C>T	XP_006719461.1:n.-212-320C>T
XR_001748704.2:n.438-9C>T
XR_002957327.1:n.438-320C>T
NM_004990.4:c.415-9C>T MANE Select	NP_004981.2:n.415-9C>T