Canonical Allele Identifier: CA7521181

Gene: TGM5

Linked Data

• dbSNP Id: rs759799204
• ExAC: 15:43544945 T / G
• gnomAD v2: 15-43544945-T-G
• gnomAD v3: 15-43252747-T-G
• gnomAD v4: 15-43252747-T-G
• MyVariant Identifiers: chr15:g.43544945T>G (hg19) ; chr15:g.43252747T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252747T>G , CM000677.2:g.43252747T>G	GRCh38
NC_000015.9:g.43544945T>G , CM000677.1:g.43544945T>G	GRCh37
NC_000015.8:g.41332237T>G	NCBI36
NG_016124.1:g.19111A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.862+12A>C MANE Select	ENSP00000220420.5:n.862+12A>C
ENST00000635871.1:n.331+12A>C
ENST00000220420.9:c.862+12A>C	ENSP00000220420.5:n.862+12A>C
ENST00000349114.8:c.616+12A>C	ENSP00000220419.8:n.616+12A>C
ENST00000610827.4:c.859+12A>C	ENSP00000479732.1:n.859+12A>C
ENST00000611276.4:c.613+12A>C	ENSP00000482542.1:n.613+12A>C
ENST00000622115.1:c.865+12A>C	ENSP00000479638.1:n.865+12A>C
NM_004245.3:c.616+12A>C	NP_004236.1:n.616+12A>C
NM_201631.3:c.862+12A>C	NP_963925.2:n.862+12A>C
XM_011522229.1:c.862+12A>C	XP_011520531.1:n.862+12A>C
XR_931948.1:n.1036+12A>C
NM_004245.4:c.616+12A>C	NP_004236.1:n.616+12A>C
NM_201631.4:c.862+12A>C MANE Select	NP_963925.2:n.862+12A>C