Canonical Allele Identifier: CA480258654
Gene: MARS1 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57489041C>T , CM000674.2:g.57489041C>T GRCh38
NC_000012.11:g.57882824C>T , CM000674.1:g.57882824C>T GRCh37
NC_000012.10:g.56169091C>T NCBI36
NG_034077.1:g.6089C>T
NG_023205.2:g.4774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262027.10:c.132C>T MANE Select ENSP00000262027.5:p.Thr44=
ENST00000262027.9:c.132C>T ENSP00000262027.5:p.Thr44=
ENST00000447721.6:n.132+842C>T
ENST00000537638.6:c.132C>T ENSP00000446168.2:p.Thr44=
ENST00000545888.6:c.132C>T ENSP00000439307.2:p.Thr44=
ENST00000546481.1:n.161C>T
ENST00000547062.5:n.155C>T
ENST00000547501.5:c.132C>T ENSP00000447145.1:p.Thr44=
ENST00000548146.1:n.473C>T
ENST00000548674.5:n.102C>T
ENST00000548714.5:n.155C>T
ENST00000549074.5:c.132C>T ENSP00000447258.1:p.Thr44=
ENST00000550449.5:n.167C>T
ENST00000551431.5:c.132C>T ENSP00000446729.1:p.Thr44=
ENST00000551842.5:n.155C>T
ENST00000551892.1:c.109+842C>T ENSP00000450018.1:n.109+842C>T
ENST00000552007.5:c.132C>T ENSP00000448576.1:p.Thr44=
ENST00000553123.1:n.356C>T
ENST00000553162.5:n.155C>T
ENST00000628866.2:c.132C>T ENSP00000486738.1:p.Thr44=
ENST00000630571.2:c.132C>T ENSP00000485951.1:p.Thr44=
ENST00000630803.1:c.109+842C>T ENSP00000486356.1:n.109+842C>T
NM_004990.3:c.132C>T NP_004981.2:p.Thr44=
XM_006719398.2:c.-495C>T XP_006719461.1:n.-495C>T
XM_011538353.1:c.132C>T XP_011536655.1:p.Thr44=
XM_006719398.4:c.-495C>T XP_006719461.1:n.-495C>T
XR_001748704.2:n.155C>T
XR_002957327.1:n.155C>T
NM_004990.4:c.132C>T MANE Select NP_004981.2:p.Thr44=