Canonical Allele Identifier: CA605318240

Gene: MARS1

Linked Data

• dbSNP Id: rs1295421113
• gnomAD v2: 12-57883643-A-G
• gnomAD v4: 12-57489860-A-G
• MyVariant Identifiers: chr12:g.57883643A>G (hg19) ; chr12:g.57489860A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489860A>G , CM000674.2:g.57489860A>G	GRCh38
NC_000012.11:g.57883643A>G , CM000674.1:g.57883643A>G	GRCh37
NC_000012.10:g.56169910A>G	NCBI36
NG_034077.1:g.6908A>G
NG_023205.2:g.3955T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.415-36A>G MANE Select	ENSP00000262027.5:n.415-36A>G
ENST00000262027.9:c.415-36A>G	ENSP00000262027.5:n.415-36A>G
ENST00000447721.6:n.133-347A>G
ENST00000537638.6:c.415-36A>G	ENSP00000446168.2:n.415-36A>G
ENST00000545888.6:c.414+302A>G	ENSP00000439307.2:n.414+302A>G
ENST00000547501.5:c.*51-36A>G	ENSP00000447145.1:n.*51-36A>G
ENST00000548674.5:n.384+302A>G
ENST00000549074.5:c.201-347A>G	ENSP00000447258.1:n.201-347A>G
ENST00000550449.5:n.528-36A>G
ENST00000551431.5:c.280-347A>G	ENSP00000446729.1:n.280-347A>G
ENST00000551892.1:c.110-418A>G	ENSP00000450018.1:n.110-418A>G
ENST00000552007.5:c.201-36A>G	ENSP00000448576.1:n.201-36A>G
ENST00000552371.1:c.30-36A>G
ENST00000553123.1:n.639-36A>G
ENST00000553162.5:n.438-36A>G
ENST00000628866.2:c.280-347A>G	ENSP00000486738.1:n.280-347A>G
ENST00000630571.2:c.201-36A>G	ENSP00000485951.1:n.201-36A>G
ENST00000630803.1:c.110-418A>G	ENSP00000486356.1:n.110-418A>G
NM_004990.3:c.415-36A>G	NP_004981.2:n.415-36A>G
XM_006719398.2:c.-213+302A>G	XP_006719461.1:n.-213+302A>G
XM_011538353.1:c.415-36A>G	XP_011536655.1:n.415-36A>G
XM_006719398.4:c.-213+302A>G	XP_006719461.1:n.-213+302A>G
XR_001748704.2:n.438-36A>G
XR_002957327.1:n.437+302A>G
NM_004990.4:c.415-36A>G MANE Select	NP_004981.2:n.415-36A>G