Canonical Allele Identifier: CA385461791

Gene: MARS1

Linked Data

• dbSNP Id: rs1565650555
• gnomAD v4: 12-57512042-A-G
• MyVariant Identifiers: chr12:g.57905825A>G (hg19) ; chr12:g.57512042A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1574A>G MANE Select	ENSP00000262027.5:p.Tyr525Cys
ENST00000262027.9:c.1574A>G	ENSP00000262027.5:p.Tyr525Cys
ENST00000447721.6:n.1216A>G
ENST00000537638.6:c.1574A>G	ENSP00000446168.2:p.Tyr525Cys
ENST00000545888.6:c.*1075A>G	ENSP00000439307.2:n.*1075A>G
ENST00000546971.5:n.318A>G
ENST00000548630.1:n.135A>G
ENST00000548944.1:c.134-4453A>G	ENSP00000449071.1:n.134-4453A>G
ENST00000549048.1:n.107A>G
ENST00000628866.2:c.*1075A>G	ENSP00000486738.1:n.*1075A>G
NM_004990.3:c.1574A>G	NP_004981.2:p.Tyr525Cys
XM_006719398.2:c.872A>G	XP_006719461.1:p.Tyr291Cys
XM_011538353.1:c.1574A>G	XP_011536655.1:p.Tyr525Cys
XM_006719398.4:c.872A>G	XP_006719461.1:p.Tyr291Cys
XR_001748704.2:n.1597A>G
XR_002957327.1:n.1521A>G
NM_004990.4:c.1574A>G MANE Select	NP_004981.2:p.Tyr525Cys