Canonical Allele Identifier: CA9731514
Gene: TGM6 HGNC NCBI

Linked Data

dbSNP Id: rs767383341
ExAC: 20:2375082 T / A
gnomAD v2: 20-2375082-T-A
gnomAD v4: 20-2394436-T-A
MyVariant Identifiers: chr20:g.2375082T>A (hg19) chr20:g.2394436T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2394436T>A , CM000682.2:g.2394436T>A GRCh38
NC_000020.10:g.2375082T>A , CM000682.1:g.2375082T>A GRCh37
NC_000020.9:g.2323082T>A NCBI36
NG_031917.1:g.18529T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000202625.7:c.8-16T>A MANE Select ENSP00000202625.2:n.8-16T>A
ENST00000202625.6:c.8-16T>A ENSP00000202625.2:n.8-16T>A
ENST00000381423.1:c.8-16T>A ENSP00000370831.1:n.8-16T>A
NM_001254734.1:c.8-16T>A NP_001241663.1:n.8-16T>A
NM_198994.2:c.8-16T>A NP_945345.2:n.8-16T>A
NM_001254734.2:c.8-16T>A NP_001241663.1:n.8-16T>A
NM_198994.3:c.8-16T>A MANE Select NP_945345.2:n.8-16T>A
Search 100 bp 5'
Search 100 bp 3'