Canonical Allele Identifier: CA6650164

Gene: MARS1

Linked Data

• dbSNP Id: rs752466933
• ExAC: 12:57883645 T / C
• gnomAD v2: 12-57883645-T-C
• gnomAD v4: 12-57489862-T-C
• MyVariant Identifiers: chr12:g.57883645T>C (hg19) ; chr12:g.57489862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489862T>C , CM000674.2:g.57489862T>C	GRCh38
NC_000012.11:g.57883645T>C , CM000674.1:g.57883645T>C	GRCh37
NC_000012.10:g.56169912T>C	NCBI36
NG_034077.1:g.6910T>C
NG_023205.2:g.3953A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.415-34T>C MANE Select	ENSP00000262027.5:n.415-34T>C
ENST00000262027.9:c.415-34T>C	ENSP00000262027.5:n.415-34T>C
ENST00000447721.6:n.133-345T>C
ENST00000537638.6:c.415-34T>C	ENSP00000446168.2:n.415-34T>C
ENST00000545888.6:c.414+304T>C	ENSP00000439307.2:n.414+304T>C
ENST00000547501.5:c.*51-34T>C	ENSP00000447145.1:n.*51-34T>C
ENST00000548674.5:n.384+304T>C
ENST00000549074.5:c.201-345T>C	ENSP00000447258.1:n.201-345T>C
ENST00000550449.5:n.528-34T>C
ENST00000551431.5:c.280-345T>C	ENSP00000446729.1:n.280-345T>C
ENST00000551892.1:c.110-416T>C	ENSP00000450018.1:n.110-416T>C
ENST00000552007.5:c.201-34T>C	ENSP00000448576.1:n.201-34T>C
ENST00000552371.1:c.30-34T>C
ENST00000553123.1:n.639-34T>C
ENST00000553162.5:n.438-34T>C
ENST00000628866.2:c.280-345T>C	ENSP00000486738.1:n.280-345T>C
ENST00000630571.2:c.201-34T>C	ENSP00000485951.1:n.201-34T>C
ENST00000630803.1:c.110-416T>C	ENSP00000486356.1:n.110-416T>C
NM_004990.3:c.415-34T>C	NP_004981.2:n.415-34T>C
XM_006719398.2:c.-213+304T>C	XP_006719461.1:n.-213+304T>C
XM_011538353.1:c.415-34T>C	XP_011536655.1:n.415-34T>C
XM_006719398.4:c.-213+304T>C	XP_006719461.1:n.-213+304T>C
XR_001748704.2:n.438-34T>C
XR_002957327.1:n.437+304T>C
NM_004990.4:c.415-34T>C MANE Select	NP_004981.2:n.415-34T>C