Canonical Allele Identifier: CA385463001

Gene: MARS1

Linked Data

• gnomAD v4: 12-57512819-C-G
• MyVariant Identifiers: chr12:g.57906602C>G (hg19) ; chr12:g.57512819C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512819C>G , CM000674.2:g.57512819C>G	GRCh38
NC_000012.11:g.57906602C>G , CM000674.1:g.57906602C>G	GRCh37
NC_000012.10:g.56192869C>G	NCBI36
NG_034077.1:g.29867C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1822C>G MANE Select	ENSP00000262027.5:p.Gln608Glu
ENST00000262027.9:c.1822C>G	ENSP00000262027.5:p.Gln608Glu
ENST00000537638.6:c.*114C>G	ENSP00000446168.2:n.*114C>G
ENST00000545888.6:c.*1323C>G	ENSP00000439307.2:n.*1323C>G
ENST00000546971.5:n.566C>G
ENST00000548202.5:n.329C>G
ENST00000548944.1:c.134-3676C>G	ENSP00000449071.1:n.134-3676C>G
ENST00000549048.1:n.487C>G
ENST00000628866.2:c.*1323C>G	ENSP00000486738.1:n.*1323C>G
NM_004990.3:c.1822C>G	NP_004981.2:p.Gln608Glu
XM_006719398.2:c.1120C>G	XP_006719461.1:p.Gln374Glu
XM_011538353.1:c.*114C>G	XP_011536655.1:n.*114C>G
XM_006719398.4:c.1120C>G	XP_006719461.1:p.Gln374Glu
XR_001748704.2:n.1778C>G
XR_002957327.1:n.1769C>G
NM_004990.4:c.1822C>G MANE Select	NP_004981.2:p.Gln608Glu