Canonical Allele Identifier: CA969183068

Gene: TGM5

Linked Data

• dbSNP Id: rs2042724074
• gnomAD v3: 15-43253713-A-G
• gnomAD v4: 15-43253713-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253713A>G , CM000677.2:g.43253713A>G	GRCh38
NC_000015.9:g.43545911A>G , CM000677.1:g.43545911A>G	GRCh37
NC_000015.8:g.41333203A>G	NCBI36
NG_016124.1:g.18145T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.556-79T>C MANE Select	ENSP00000220420.5:n.556-79T>C
ENST00000220420.9:c.556-79T>C	ENSP00000220420.5:n.556-79T>C
ENST00000349114.8:c.310-79T>C	ENSP00000220419.8:n.310-79T>C
ENST00000610827.4:c.553-79T>C	ENSP00000479732.1:n.553-79T>C
ENST00000611276.4:c.307-79T>C	ENSP00000482542.1:n.307-79T>C
ENST00000622115.1:c.559-79T>C	ENSP00000479638.1:n.559-79T>C
NM_004245.3:c.310-79T>C	NP_004236.1:n.310-79T>C
NM_201631.3:c.556-79T>C	NP_963925.2:n.556-79T>C
XM_011522229.1:c.556-79T>C	XP_011520531.1:n.556-79T>C
XR_931948.1:n.730-79T>C
NM_004245.4:c.310-79T>C	NP_004236.1:n.310-79T>C
NM_201631.4:c.556-79T>C MANE Select	NP_963925.2:n.556-79T>C