Canonical Allele Identifier: CA216815219

Gene: MTG1

Linked Data

• dbSNP Id: rs969141602
• gnomAD v2: 10-135225790-G-A
• gnomAD v3: 10-133412286-G-A
• gnomAD v4: 10-133412286-G-A
• MyVariant Identifiers: chr10:g.135225790G>A (hg19) ; chr10:g.133412286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133412286G>A , CM000672.2:g.133412286G>A	GRCh38
NC_000010.10:g.135225790G>A , CM000672.1:g.135225790G>A	GRCh37
NC_000010.9:g.135075780G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317502.11:c.753-7194G>A MANE Select	ENSP00000323047.6:n.753-7194G>A
ENST00000468317.3:c.*677-7194G>A	ENSP00000436767.2:n.*677-7194G>A
ENST00000317502.10:c.753-7194G>A	ENSP00000323047.6:n.753-7194G>A
ENST00000432508.3:c.600-7194G>A	ENSP00000393480.2:n.600-7194G>A
ENST00000460848.5:n.1336-7194G>A
ENST00000468317.2:c.768-7194G>A	ENSP00000436767.1:n.768-7194G>A
ENST00000473735.1:n.1607-7194G>A
ENST00000477902.6:c.630-7194G>A	ENSP00000475596.1:n.630-7194G>A
NM_138384.2:c.753-7194G>A	NP_612393.2:n.753-7194G>A
NM_138384.3:c.753-7194G>A	NP_612393.2:n.753-7194G>A
NM_138384.4:c.753-7194G>A MANE Select	NP_612393.2:n.753-7194G>A