Canonical Allele Identifier: CA690279586

Gene: MARS1

Linked Data

• dbSNP Id: rs1444285981
• gnomAD v3: 12-57489885-C-G
• gnomAD v4: 12-57489885-C-G
• MyVariant Identifiers: chr12:g.57883668C>G (hg19) ; chr12:g.57489885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489885C>G , CM000674.2:g.57489885C>G	GRCh38
NC_000012.11:g.57883668C>G , CM000674.1:g.57883668C>G	GRCh37
NC_000012.10:g.56169935C>G	NCBI36
NG_034077.1:g.6933C>G
NG_023205.2:g.3930G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.415-11C>G MANE Select	ENSP00000262027.5:n.415-11C>G
ENST00000262027.9:c.415-11C>G	ENSP00000262027.5:n.415-11C>G
ENST00000447721.6:n.133-322C>G
ENST00000537638.6:c.415-11C>G	ENSP00000446168.2:n.415-11C>G
ENST00000545888.6:c.415-322C>G	ENSP00000439307.2:n.415-322C>G
ENST00000547501.5:c.*51-11C>G	ENSP00000447145.1:n.*51-11C>G
ENST00000548674.5:n.385-322C>G
ENST00000549074.5:c.201-322C>G	ENSP00000447258.1:n.201-322C>G
ENST00000550449.5:n.528-11C>G
ENST00000551431.5:c.280-322C>G	ENSP00000446729.1:n.280-322C>G
ENST00000551892.1:c.110-393C>G	ENSP00000450018.1:n.110-393C>G
ENST00000552007.5:c.201-11C>G	ENSP00000448576.1:n.201-11C>G
ENST00000552371.1:c.30-11C>G
ENST00000553123.1:n.639-11C>G
ENST00000553162.5:n.438-11C>G
ENST00000628866.2:c.280-322C>G	ENSP00000486738.1:n.280-322C>G
ENST00000630571.2:c.201-11C>G	ENSP00000485951.1:n.201-11C>G
ENST00000630803.1:c.110-393C>G	ENSP00000486356.1:n.110-393C>G
NM_004990.3:c.415-11C>G	NP_004981.2:n.415-11C>G
XM_006719398.2:c.-212-322C>G	XP_006719461.1:n.-212-322C>G
XM_011538353.1:c.415-11C>G	XP_011536655.1:n.415-11C>G
XM_006719398.4:c.-212-322C>G	XP_006719461.1:n.-212-322C>G
XR_001748704.2:n.438-11C>G
XR_002957327.1:n.438-322C>G
NM_004990.4:c.415-11C>G MANE Select	NP_004981.2:n.415-11C>G