Canonical Allele Identifier: CA2619464897

Gene: MARS1

Linked Data

• gnomAD v4: 12-57489769-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489769T>G , CM000674.2:g.57489769T>G	GRCh38
NC_000012.11:g.57883552T>G , CM000674.1:g.57883552T>G	GRCh37
NC_000012.10:g.56169819T>G	NCBI36
NG_034077.1:g.6817T>G
NG_023205.2:g.4046A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.415-127T>G MANE Select	ENSP00000262027.5:n.415-127T>G
ENST00000262027.9:c.415-127T>G	ENSP00000262027.5:n.415-127T>G
ENST00000447721.6:n.133-438T>G
ENST00000537638.6:c.415-127T>G	ENSP00000446168.2:n.415-127T>G
ENST00000545888.6:c.414+211T>G	ENSP00000439307.2:n.414+211T>G
ENST00000547501.5:c.*51-127T>G	ENSP00000447145.1:n.*51-127T>G
ENST00000548674.5:n.384+211T>G
ENST00000549074.5:c.201-438T>G	ENSP00000447258.1:n.201-438T>G
ENST00000550449.5:n.528-127T>G
ENST00000551431.5:c.279+424T>G	ENSP00000446729.1:n.279+424T>G
ENST00000551842.5:n.648T>G
ENST00000551892.1:c.110-509T>G	ENSP00000450018.1:n.110-509T>G
ENST00000552007.5:c.201-127T>G	ENSP00000448576.1:n.201-127T>G
ENST00000552371.1:c.30-127T>G
ENST00000553123.1:n.639-127T>G
ENST00000553162.5:n.438-127T>G
ENST00000628866.2:c.279+424T>G	ENSP00000486738.1:n.279+424T>G
ENST00000630571.2:c.201-127T>G	ENSP00000485951.1:n.201-127T>G
ENST00000630803.1:c.110-509T>G	ENSP00000486356.1:n.110-509T>G
NM_004990.3:c.415-127T>G	NP_004981.2:n.415-127T>G
XM_006719398.2:c.-213+211T>G	XP_006719461.1:n.-213+211T>G
XM_011538353.1:c.415-127T>G	XP_011536655.1:n.415-127T>G
XM_006719398.4:c.-213+211T>G	XP_006719461.1:n.-213+211T>G
XR_001748704.2:n.438-127T>G
XR_002957327.1:n.437+211T>G
NM_004990.4:c.415-127T>G MANE Select	NP_004981.2:n.415-127T>G