Canonical Allele Identifier: CA6650607

Gene: MARS1

Linked Data

• dbSNP Id: rs754787800
• ExAC: 12:57906434 T / C
• gnomAD v2: 12-57906434-T-C
• gnomAD v4: 12-57512651-T-C
• MyVariant Identifiers: chr12:g.57906434T>C (hg19) ; chr12:g.57512651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512651T>C , CM000674.2:g.57512651T>C	GRCh38
NC_000012.11:g.57906434T>C , CM000674.1:g.57906434T>C	GRCh37
NC_000012.10:g.56192701T>C	NCBI36
NG_034077.1:g.29699T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1754-100T>C MANE Select	ENSP00000262027.5:n.1754-100T>C
ENST00000262027.9:c.1754-100T>C	ENSP00000262027.5:n.1754-100T>C
ENST00000537638.6:c.*46-100T>C	ENSP00000446168.2:n.*46-100T>C
ENST00000545888.6:c.*1255-100T>C	ENSP00000439307.2:n.*1255-100T>C
ENST00000546971.5:n.498-100T>C
ENST00000548202.5:n.161T>C
ENST00000548944.1:c.134-3844T>C	ENSP00000449071.1:n.134-3844T>C
ENST00000549048.1:n.419-100T>C
ENST00000628866.2:c.*1255-100T>C	ENSP00000486738.1:n.*1255-100T>C
NM_004990.3:c.1754-100T>C	NP_004981.2:n.1754-100T>C
XM_006719398.2:c.1052-100T>C	XP_006719461.1:n.1052-100T>C
XM_011538353.1:c.*46-100T>C	XP_011536655.1:n.*46-100T>C
XM_006719398.4:c.1052-100T>C	XP_006719461.1:n.1052-100T>C
XR_001748704.2:n.1710-100T>C
XR_002957327.1:n.1701-100T>C
NM_004990.4:c.1754-100T>C MANE Select	NP_004981.2:n.1754-100T>C