Canonical Allele Identifier: CA9731513

Gene: TGM6

Linked Data

• dbSNP Id: rs763039648
• ExAC: 20:2375075 C / T
• gnomAD v2: 20-2375075-C-T
• gnomAD v4: 20-2394429-C-T
• MyVariant Identifiers: chr20:g.2375075C>T (hg19) ; chr20:g.2394429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2394429C>T , CM000682.2:g.2394429C>T	GRCh38
NC_000020.10:g.2375075C>T , CM000682.1:g.2375075C>T	GRCh37
NC_000020.9:g.2323075C>T	NCBI36
NG_031917.1:g.18522C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000202625.7:c.8-23C>T MANE Select	ENSP00000202625.2:n.8-23C>T
ENST00000202625.6:c.8-23C>T	ENSP00000202625.2:n.8-23C>T
ENST00000381423.1:c.8-23C>T	ENSP00000370831.1:n.8-23C>T
NM_001254734.1:c.8-23C>T	NP_001241663.1:n.8-23C>T
NM_198994.2:c.8-23C>T	NP_945345.2:n.8-23C>T
NM_001254734.2:c.8-23C>T	NP_001241663.1:n.8-23C>T
NM_198994.3:c.8-23C>T MANE Select	NP_945345.2:n.8-23C>T