Canonical Allele Identifier: CA6650630

Gene: MARS1

Linked Data

• dbSNP Id: rs756021768
• ExAC: 12:57906594 A / G
• gnomAD v2: 12-57906594-A-G
• gnomAD v4: 12-57512811-A-G
• MyVariant Identifiers: chr12:g.57906594A>G (hg19) ; chr12:g.57512811A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512811A>G , CM000674.2:g.57512811A>G	GRCh38
NC_000012.11:g.57906594A>G , CM000674.1:g.57906594A>G	GRCh37
NC_000012.10:g.56192861A>G	NCBI36
NG_034077.1:g.29859A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1814A>G MANE Select	ENSP00000262027.5:p.Asp605Gly
ENST00000262027.9:c.1814A>G	ENSP00000262027.5:p.Asp605Gly
ENST00000537638.6:c.*106A>G	ENSP00000446168.2:n.*106A>G
ENST00000545888.6:c.*1315A>G	ENSP00000439307.2:n.*1315A>G
ENST00000546971.5:n.558A>G
ENST00000548202.5:n.321A>G
ENST00000548944.1:c.134-3684A>G	ENSP00000449071.1:n.134-3684A>G
ENST00000549048.1:n.479A>G
ENST00000628866.2:c.*1315A>G	ENSP00000486738.1:n.*1315A>G
NM_004990.3:c.1814A>G	NP_004981.2:p.Asp605Gly
XM_006719398.2:c.1112A>G	XP_006719461.1:p.Asp371Gly
XM_011538353.1:c.*106A>G	XP_011536655.1:n.*106A>G
XM_006719398.4:c.1112A>G	XP_006719461.1:p.Asp371Gly
XR_001748704.2:n.1770A>G
XR_002957327.1:n.1761A>G
NM_004990.4:c.1814A>G MANE Select	NP_004981.2:p.Asp605Gly