Canonical Allele Identifier: CA6650508

Gene: MARS1

Linked Data

• ClinVar Variation Id: 542179
• ClinVar RCV Id: RCV000652568 ; RCV001334346
• dbSNP Id: rs377050640
• ExAC: 12:57905474 A / C
• gnomAD v2: 12-57905474-A-C
• gnomAD v3: 12-57511691-A-C
• gnomAD v4: 12-57511691-A-C
• MyVariant Identifiers: chr12:g.57905474A>C (hg19) ; chr12:g.57511691A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511691A>C , CM000674.2:g.57511691A>C	GRCh38
NC_000012.11:g.57905474A>C , CM000674.1:g.57905474A>C	GRCh37
NC_000012.10:g.56191741A>C	NCBI36
NG_034077.1:g.28739A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1369-7A>C MANE Select	ENSP00000262027.5:n.1369-7A>C
ENST00000262027.9:c.1369-7A>C	ENSP00000262027.5:n.1369-7A>C
ENST00000447721.6:n.1011-7A>C
ENST00000537638.6:c.1369-7A>C	ENSP00000446168.2:n.1369-7A>C
ENST00000545888.6:c.*870-7A>C	ENSP00000439307.2:n.*870-7A>C
ENST00000546971.5:n.106A>C
ENST00000548944.1:c.134-4804A>C	ENSP00000449071.1:n.134-4804A>C
ENST00000549603.1:n.315-7A>C
ENST00000628866.2:c.*870-7A>C	ENSP00000486738.1:n.*870-7A>C
NM_004990.3:c.1369-7A>C	NP_004981.2:n.1369-7A>C
XM_006719398.2:c.667-7A>C	XP_006719461.1:n.667-7A>C
XM_011538353.1:c.1369-7A>C	XP_011536655.1:n.1369-7A>C
XM_006719398.4:c.667-7A>C	XP_006719461.1:n.667-7A>C
XR_001748704.2:n.1392-7A>C
XR_002957327.1:n.1316-7A>C
NM_004990.4:c.1369-7A>C MANE Select	NP_004981.2:n.1369-7A>C