Canonical Allele Identifier: CA392098821

Gene: TGM5

Linked Data

• dbSNP Id: rs2042713777
• gnomAD v3: 15-43252764-C-A
• gnomAD v4: 15-43252764-C-A
• MyVariant Identifiers: chr15:g.43544962C>A (hg19) ; chr15:g.43252764C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252764C>A , CM000677.2:g.43252764C>A	GRCh38
NC_000015.9:g.43544962C>A , CM000677.1:g.43544962C>A	GRCh37
NC_000015.8:g.41332254C>A	NCBI36
NG_016124.1:g.19094G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.857G>T MANE Select	ENSP00000220420.5:p.Cys286Phe
ENST00000635871.1:n.326G>T
ENST00000220420.9:c.857G>T	ENSP00000220420.5:p.Cys286Phe
ENST00000349114.8:c.611G>T	ENSP00000220419.8:p.Cys204Phe
ENST00000610827.4:c.854G>T	ENSP00000479732.1:p.Cys285Phe
ENST00000611276.4:c.608G>T	ENSP00000482542.1:p.Cys203Phe
ENST00000622115.1:c.860G>T	ENSP00000479638.1:p.Cys287Phe
NM_004245.3:c.611G>T	NP_004236.1:p.Cys204Phe
NM_201631.3:c.857G>T	NP_963925.2:p.Cys286Phe
XM_011522229.1:c.857G>T	XP_011520531.1:p.Cys286Phe
XR_931948.1:n.1031G>T
NM_004245.4:c.611G>T	NP_004236.1:p.Cys204Phe
NM_201631.4:c.857G>T MANE Select	NP_963925.2:p.Cys286Phe