Canonical Allele Identifier: CA618003367

Gene: TGM5

Linked Data

• dbSNP Id: rs1163204236
• gnomAD v2: 15-43544952-C-A
• MyVariant Identifiers: chr15:g.43544952C>A (hg19) ; chr15:g.43252754C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252754C>A , CM000677.2:g.43252754C>A	GRCh38
NC_000015.9:g.43544952C>A , CM000677.1:g.43544952C>A	GRCh37
NC_000015.8:g.41332244C>A	NCBI36
NG_016124.1:g.19104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.862+5G>T MANE Select	ENSP00000220420.5:n.862+5G>T
ENST00000635871.1:n.331+5G>T
ENST00000220420.9:c.862+5G>T	ENSP00000220420.5:n.862+5G>T
ENST00000349114.8:c.616+5G>T	ENSP00000220419.8:n.616+5G>T
ENST00000610827.4:c.859+5G>T	ENSP00000479732.1:n.859+5G>T
ENST00000611276.4:c.613+5G>T	ENSP00000482542.1:n.613+5G>T
ENST00000622115.1:c.865+5G>T	ENSP00000479638.1:n.865+5G>T
NM_004245.3:c.616+5G>T	NP_004236.1:n.616+5G>T
NM_201631.3:c.862+5G>T	NP_963925.2:n.862+5G>T
XM_011522229.1:c.862+5G>T	XP_011520531.1:n.862+5G>T
XR_931948.1:n.1036+5G>T
NM_004245.4:c.616+5G>T	NP_004236.1:n.616+5G>T
NM_201631.4:c.862+5G>T MANE Select	NP_963925.2:n.862+5G>T