Canonical Allele Identifier: CA385461603

Gene: MARS1

Linked Data

• gnomAD v4: 12-57511824-C-G
• MyVariant Identifiers: chr12:g.57905607C>G (hg19) ; chr12:g.57511824C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511824C>G , CM000674.2:g.57511824C>G	GRCh38
NC_000012.11:g.57905607C>G , CM000674.1:g.57905607C>G	GRCh37
NC_000012.10:g.56191874C>G	NCBI36
NG_034077.1:g.28872C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1495C>G MANE Select	ENSP00000262027.5:p.Leu499Val
ENST00000262027.9:c.1495C>G	ENSP00000262027.5:p.Leu499Val
ENST00000447721.6:n.1137C>G
ENST00000537638.6:c.1495C>G	ENSP00000446168.2:p.Leu499Val
ENST00000545888.6:c.*996C>G	ENSP00000439307.2:n.*996C>G
ENST00000546971.5:n.239C>G
ENST00000548630.1:n.56C>G
ENST00000548944.1:c.134-4671C>G	ENSP00000449071.1:n.134-4671C>G
ENST00000549048.1:n.28C>G
ENST00000628866.2:c.*996C>G	ENSP00000486738.1:n.*996C>G
NM_004990.3:c.1495C>G	NP_004981.2:p.Leu499Val
XM_006719398.2:c.793C>G	XP_006719461.1:p.Leu265Val
XM_011538353.1:c.1495C>G	XP_011536655.1:p.Leu499Val
XM_006719398.4:c.793C>G	XP_006719461.1:p.Leu265Val
XR_001748704.2:n.1518C>G
XR_002957327.1:n.1442C>G
NM_004990.4:c.1495C>G MANE Select	NP_004981.2:p.Leu499Val