Canonical Allele Identifier: CA385461181

Gene: MARS1

Linked Data

• gnomAD v4: 12-57511744-G-T
• MyVariant Identifiers: chr12:g.57905527G>T (hg19) ; chr12:g.57511744G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511744G>T , CM000674.2:g.57511744G>T	GRCh38
NC_000012.11:g.57905527G>T , CM000674.1:g.57905527G>T	GRCh37
NC_000012.10:g.56191794G>T	NCBI36
NG_034077.1:g.28792G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1415G>T MANE Select	ENSP00000262027.5:p.Ser472Ile
ENST00000262027.9:c.1415G>T	ENSP00000262027.5:p.Ser472Ile
ENST00000447721.6:n.1057G>T
ENST00000537638.6:c.1415G>T	ENSP00000446168.2:p.Ser472Ile
ENST00000545888.6:c.*916G>T	ENSP00000439307.2:n.*916G>T
ENST00000546971.5:n.159G>T
ENST00000548944.1:c.134-4751G>T	ENSP00000449071.1:n.134-4751G>T
ENST00000549603.1:n.361G>T
ENST00000628866.2:c.*916G>T	ENSP00000486738.1:n.*916G>T
NM_004990.3:c.1415G>T	NP_004981.2:p.Ser472Ile
XM_006719398.2:c.713G>T	XP_006719461.1:p.Ser238Ile
XM_011538353.1:c.1415G>T	XP_011536655.1:p.Ser472Ile
XM_006719398.4:c.713G>T	XP_006719461.1:p.Ser238Ile
XR_001748704.2:n.1438G>T
XR_002957327.1:n.1362G>T
NM_004990.4:c.1415G>T MANE Select	NP_004981.2:p.Ser472Ile