Canonical Allele Identifier: CA6650536

Gene: MARS1

Linked Data

• dbSNP Id: rs756199344
• ExAC: 12:57905623 C / A
• gnomAD v2: 12-57905623-C-A
• gnomAD v3: 12-57511840-C-A
• gnomAD v4: 12-57511840-C-A
• MyVariant Identifiers: chr12:g.57905623C>A (hg19) ; chr12:g.57511840C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511840C>A , CM000674.2:g.57511840C>A	GRCh38
NC_000012.11:g.57905623C>A , CM000674.1:g.57905623C>A	GRCh37
NC_000012.10:g.56191890C>A	NCBI36
NG_034077.1:g.28888C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1511C>A MANE Select	ENSP00000262027.5:p.Pro504His
ENST00000262027.9:c.1511C>A	ENSP00000262027.5:p.Pro504His
ENST00000447721.6:n.1153C>A
ENST00000537638.6:c.1511C>A	ENSP00000446168.2:p.Pro504His
ENST00000545888.6:c.*1012C>A	ENSP00000439307.2:n.*1012C>A
ENST00000546971.5:n.255C>A
ENST00000548630.1:n.72C>A
ENST00000548944.1:c.134-4655C>A	ENSP00000449071.1:n.134-4655C>A
ENST00000549048.1:n.44C>A
ENST00000628866.2:c.*1012C>A	ENSP00000486738.1:n.*1012C>A
NM_004990.3:c.1511C>A	NP_004981.2:p.Pro504His
XM_006719398.2:c.809C>A	XP_006719461.1:p.Pro270His
XM_011538353.1:c.1511C>A	XP_011536655.1:p.Pro504His
XM_006719398.4:c.809C>A	XP_006719461.1:p.Pro270His
XR_001748704.2:n.1534C>A
XR_002957327.1:n.1458C>A
NM_004990.4:c.1511C>A MANE Select	NP_004981.2:p.Pro504His