Canonical Allele Identifier: CA237767534

Gene: MARS1

Linked Data

• dbSNP Id: rs926109819
• gnomAD v3: 12-57511494-T-C
• gnomAD v4: 12-57511494-T-C
• MyVariant Identifiers: chr12:g.57905277T>C (hg19) ; chr12:g.57511494T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511494T>C , CM000674.2:g.57511494T>C	GRCh38
NC_000012.11:g.57905277T>C , CM000674.1:g.57905277T>C	GRCh37
NC_000012.10:g.56191544T>C	NCBI36
NG_034077.1:g.28542T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1369-204T>C MANE Select	ENSP00000262027.5:n.1369-204T>C
ENST00000262027.9:c.1369-204T>C	ENSP00000262027.5:n.1369-204T>C
ENST00000447721.6:n.1011-204T>C
ENST00000537638.6:c.1369-204T>C	ENSP00000446168.2:n.1369-204T>C
ENST00000545888.6:c.*870-204T>C	ENSP00000439307.2:n.*870-204T>C
ENST00000548944.1:c.134-5001T>C	ENSP00000449071.1:n.134-5001T>C
ENST00000549603.1:n.315-204T>C
ENST00000628866.2:c.*870-204T>C	ENSP00000486738.1:n.*870-204T>C
NM_004990.3:c.1369-204T>C	NP_004981.2:n.1369-204T>C
XM_006719398.2:c.667-204T>C	XP_006719461.1:n.667-204T>C
XM_011538353.1:c.1369-204T>C	XP_011536655.1:n.1369-204T>C
XM_006719398.4:c.667-204T>C	XP_006719461.1:n.667-204T>C
XR_001748704.2:n.1392-204T>C
XR_002957327.1:n.1316-204T>C
NM_004990.4:c.1369-204T>C MANE Select	NP_004981.2:n.1369-204T>C