Canonical Allele Identifier: CA7521231

Gene: TGM5

Linked Data

• dbSNP Id: rs759433715
• ExAC: 15:43545118 T / G
• gnomAD v2: 15-43545118-T-G
• gnomAD v3: 15-43252920-T-G
• gnomAD v4: 15-43252920-T-G
• MyVariant Identifiers: chr15:g.43545118T>G (hg19) ; chr15:g.43252920T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252920T>G , CM000677.2:g.43252920T>G	GRCh38
NC_000015.9:g.43545118T>G , CM000677.1:g.43545118T>G	GRCh37
NC_000015.8:g.41332410T>G	NCBI36
NG_016124.1:g.18938A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.701A>C MANE Select	ENSP00000220420.5:p.Asp234Ala
ENST00000635871.1:n.170A>C
ENST00000220420.9:c.701A>C	ENSP00000220420.5:p.Asp234Ala
ENST00000349114.8:c.455A>C	ENSP00000220419.8:p.Asp152Ala
ENST00000610827.4:c.698A>C	ENSP00000479732.1:p.Asp233Ala
ENST00000611276.4:c.452A>C	ENSP00000482542.1:p.Asp151Ala
ENST00000622115.1:c.704A>C	ENSP00000479638.1:p.Asp235Ala
NM_004245.3:c.455A>C	NP_004236.1:p.Asp152Ala
NM_201631.3:c.701A>C	NP_963925.2:p.Asp234Ala
XM_011522229.1:c.701A>C	XP_011520531.1:p.Asp234Ala
XR_931948.1:n.875A>C
NM_004245.4:c.455A>C	NP_004236.1:p.Asp152Ala
NM_201631.4:c.701A>C MANE Select	NP_963925.2:p.Asp234Ala