Canonical Allele Identifier: CA392098879

Gene: TGM5

Linked Data

• gnomAD v4: 15-43252774-C-G
• MyVariant Identifiers: chr15:g.43544972C>G (hg19) ; chr15:g.43252774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252774C>G , CM000677.2:g.43252774C>G	GRCh38
NC_000015.9:g.43544972C>G , CM000677.1:g.43544972C>G	GRCh37
NC_000015.8:g.41332264C>G	NCBI36
NG_016124.1:g.19084G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.847G>C MANE Select	ENSP00000220420.5:p.Ala283Pro
ENST00000635871.1:n.316G>C
ENST00000220420.9:c.847G>C	ENSP00000220420.5:p.Ala283Pro
ENST00000349114.8:c.601G>C	ENSP00000220419.8:p.Ala201Pro
ENST00000610827.4:c.844G>C	ENSP00000479732.1:p.Ala282Pro
ENST00000611276.4:c.598G>C	ENSP00000482542.1:p.Ala200Pro
ENST00000622115.1:c.850G>C	ENSP00000479638.1:p.Ala284Pro
NM_004245.3:c.601G>C	NP_004236.1:p.Ala201Pro
NM_201631.3:c.847G>C	NP_963925.2:p.Ala283Pro
XM_011522229.1:c.847G>C	XP_011520531.1:p.Ala283Pro
XR_931948.1:n.1021G>C
NM_004245.4:c.601G>C	NP_004236.1:p.Ala201Pro
NM_201631.4:c.847G>C MANE Select	NP_963925.2:p.Ala283Pro