Canonical Allele Identifier: CA9732133
Gene: TGM6 HGNC NCBI

Linked Data

dbSNP Id: rs762219620
ExAC: 20:2398111 G / A
gnomAD v2: 20-2398111-G-A
gnomAD v4: 20-2417465-G-A
MyVariant Identifiers: chr20:g.2398111G>A (hg19) chr20:g.2398111_2398112delinsAC (hg19) chr20:g.2417465G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2417465G>A , CM000682.2:g.2417465G>A GRCh38
NC_000020.10:g.2398111G>A , CM000682.1:g.2398111G>A GRCh37
NC_000020.9:g.2346111G>A NCBI36
NG_031917.1:g.41558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000202625.7:c.1570G>A MANE Select ENSP00000202625.2:p.Ala524Thr
ENST00000202625.6:c.1570G>A ENSP00000202625.2:p.Ala524Thr
ENST00000381423.1:c.1570G>A ENSP00000370831.1:p.Ala524Thr
NM_001254734.1:c.1570G>A NP_001241663.1:p.Ala524Thr
NM_198994.2:c.1570G>A NP_945345.2:p.Ala524Thr
NM_001254734.2:c.1570G>A NP_001241663.1:p.Ala524Thr
NM_198994.3:c.1570G>A MANE Select NP_945345.2:p.Ala524Thr
Search 100 bp 5'
Search 100 bp 3'