Canonical Allele Identifier: CA6650554

Gene: MARS1

Linked Data

• ClinVar Variation Id: 2928695
• ClinVar RCV Id: RCV003789469
• dbSNP Id: rs200241086
• ExAC: 12:57905846 A / G
• gnomAD v2: 12-57905846-A-G
• gnomAD v3: 12-57512063-A-G
• gnomAD v4: 12-57512063-A-G
• MyVariant Identifiers: chr12:g.57905846A>G (hg19) ; chr12:g.57512063A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512063A>G , CM000674.2:g.57512063A>G	GRCh38
NC_000012.11:g.57905846A>G , CM000674.1:g.57905846A>G	GRCh37
NC_000012.10:g.56192113A>G	NCBI36
NG_034077.1:g.29111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1595A>G MANE Select	ENSP00000262027.5:p.Tyr532Cys
ENST00000262027.9:c.1595A>G	ENSP00000262027.5:p.Tyr532Cys
ENST00000447721.6:n.1237A>G
ENST00000537638.6:c.1595A>G	ENSP00000446168.2:p.Tyr532Cys
ENST00000545888.6:c.*1096A>G	ENSP00000439307.2:n.*1096A>G
ENST00000546971.5:n.339A>G
ENST00000548630.1:n.156A>G
ENST00000548944.1:c.134-4432A>G	ENSP00000449071.1:n.134-4432A>G
ENST00000549048.1:n.128A>G
ENST00000628866.2:c.*1096A>G	ENSP00000486738.1:n.*1096A>G
NM_004990.3:c.1595A>G	NP_004981.2:p.Tyr532Cys
XM_006719398.2:c.893A>G	XP_006719461.1:p.Tyr298Cys
XM_011538353.1:c.1595A>G	XP_011536655.1:p.Tyr532Cys
XM_006719398.4:c.893A>G	XP_006719461.1:p.Tyr298Cys
XR_001748704.2:n.1618A>G
XR_002957327.1:n.1542A>G
NM_004990.4:c.1595A>G MANE Select	NP_004981.2:p.Tyr532Cys