Canonical Allele Identifier: CA9732158
Gene: TGM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 337934
ClinVar RCV Id: RCV000291778 RCV001289326 RCV000884907
dbSNP Id: rs74338361
ExAC: 20:2398198 G / A
gnomAD v2: 20-2398198-G-A
gnomAD v3: 20-2417552-G-A
gnomAD v4: 20-2417552-G-A
COSMIC: COSM3707655
MyVariant Identifiers: chr20:g.2398198G>A (hg19) chr20:g.2417552G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2417552G>A , CM000682.2:g.2417552G>A GRCh38
NC_000020.10:g.2398198G>A , CM000682.1:g.2398198G>A GRCh37
NC_000020.9:g.2346198G>A NCBI36
NG_031917.1:g.41645G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000202625.7:c.1657G>A MANE Select ENSP00000202625.2:p.Val553Met
ENST00000202625.6:c.1657G>A ENSP00000202625.2:p.Val553Met
ENST00000381423.1:c.1657G>A ENSP00000370831.1:p.Val553Met
NM_001254734.1:c.1657G>A NP_001241663.1:p.Val553Met
NM_198994.2:c.1657G>A NP_945345.2:p.Val553Met
NM_001254734.2:c.1657G>A NP_001241663.1:p.Val553Met
NM_198994.3:c.1657G>A MANE Select NP_945345.2:p.Val553Met
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