Canonical Allele Identifier: CA269975866

Gene: TGM5

Linked Data

• dbSNP Id: rs943652059
• gnomAD v4: 15-43253454-A-C
• MyVariant Identifiers: chr15:g.43545652A>C (hg19) ; chr15:g.43253454A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253454A>C , CM000677.2:g.43253454A>C	GRCh38
NC_000015.9:g.43545652A>C , CM000677.1:g.43545652A>C	GRCh37
NC_000015.8:g.41332944A>C	NCBI36
NG_016124.1:g.18404T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.684+52T>G MANE Select	ENSP00000220420.5:n.684+52T>G
ENST00000635871.1:n.153+52T>G
ENST00000220420.9:c.684+52T>G	ENSP00000220420.5:n.684+52T>G
ENST00000349114.8:c.438+52T>G	ENSP00000220419.8:n.438+52T>G
ENST00000610827.4:c.681+52T>G	ENSP00000479732.1:n.681+52T>G
ENST00000611276.4:c.435+52T>G	ENSP00000482542.1:n.435+52T>G
ENST00000622115.1:c.687+52T>G	ENSP00000479638.1:n.687+52T>G
NM_004245.3:c.438+52T>G	NP_004236.1:n.438+52T>G
NM_201631.3:c.684+52T>G	NP_963925.2:n.684+52T>G
XM_011522229.1:c.684+52T>G	XP_011520531.1:n.684+52T>G
XR_931948.1:n.858+52T>G
NM_004245.4:c.438+52T>G	NP_004236.1:n.438+52T>G
NM_201631.4:c.684+52T>G MANE Select	NP_963925.2:n.684+52T>G