Canonical Allele Identifier: CA690284405

Gene: MARS1

Linked Data

• dbSNP Id: rs1366936161
• gnomAD v3: 12-57512645-C-T
• gnomAD v4: 12-57512645-C-T
• MyVariant Identifiers: chr12:g.57906428C>T (hg19) ; chr12:g.57512645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512645C>T , CM000674.2:g.57512645C>T	GRCh38
NC_000012.11:g.57906428C>T , CM000674.1:g.57906428C>T	GRCh37
NC_000012.10:g.56192695C>T	NCBI36
NG_034077.1:g.29693C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1754-106C>T MANE Select	ENSP00000262027.5:n.1754-106C>T
ENST00000262027.9:c.1754-106C>T	ENSP00000262027.5:n.1754-106C>T
ENST00000537638.6:c.*46-106C>T	ENSP00000446168.2:n.*46-106C>T
ENST00000545888.6:c.*1255-106C>T	ENSP00000439307.2:n.*1255-106C>T
ENST00000546971.5:n.498-106C>T
ENST00000548202.5:n.155C>T
ENST00000548944.1:c.134-3850C>T	ENSP00000449071.1:n.134-3850C>T
ENST00000549048.1:n.419-106C>T
ENST00000628866.2:c.*1255-106C>T	ENSP00000486738.1:n.*1255-106C>T
NM_004990.3:c.1754-106C>T	NP_004981.2:n.1754-106C>T
XM_006719398.2:c.1052-106C>T	XP_006719461.1:n.1052-106C>T
XM_011538353.1:c.*46-106C>T	XP_011536655.1:n.*46-106C>T
XM_006719398.4:c.1052-106C>T	XP_006719461.1:n.1052-106C>T
XR_001748704.2:n.1710-106C>T
XR_002957327.1:n.1701-106C>T
NM_004990.4:c.1754-106C>T MANE Select	NP_004981.2:n.1754-106C>T