Canonical Allele Identifier: CA385461790

Gene: MARS1

Linked Data

• gnomAD v4: 12-57512042-A-C
• MyVariant Identifiers: chr12:g.57905825A>C (hg19) ; chr12:g.57512042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512042A>C , CM000674.2:g.57512042A>C	GRCh38
NC_000012.11:g.57905825A>C , CM000674.1:g.57905825A>C	GRCh37
NC_000012.10:g.56192092A>C	NCBI36
NG_034077.1:g.29090A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1574A>C MANE Select	ENSP00000262027.5:p.Tyr525Ser
ENST00000262027.9:c.1574A>C	ENSP00000262027.5:p.Tyr525Ser
ENST00000447721.6:n.1216A>C
ENST00000537638.6:c.1574A>C	ENSP00000446168.2:p.Tyr525Ser
ENST00000545888.6:c.*1075A>C	ENSP00000439307.2:n.*1075A>C
ENST00000546971.5:n.318A>C
ENST00000548630.1:n.135A>C
ENST00000548944.1:c.134-4453A>C	ENSP00000449071.1:n.134-4453A>C
ENST00000549048.1:n.107A>C
ENST00000628866.2:c.*1075A>C	ENSP00000486738.1:n.*1075A>C
NM_004990.3:c.1574A>C	NP_004981.2:p.Tyr525Ser
XM_006719398.2:c.872A>C	XP_006719461.1:p.Tyr291Ser
XM_011538353.1:c.1574A>C	XP_011536655.1:p.Tyr525Ser
XM_006719398.4:c.872A>C	XP_006719461.1:p.Tyr291Ser
XR_001748704.2:n.1597A>C
XR_002957327.1:n.1521A>C
NM_004990.4:c.1574A>C MANE Select	NP_004981.2:p.Tyr525Ser