Canonical Allele Identifier: CA617644159

Gene: TGM5

Linked Data

• dbSNP Id: rs1454740241
• gnomAD v2: 15-43545913-C-G
• gnomAD v3: 15-43253715-C-G
• gnomAD v4: 15-43253715-C-G
• MyVariant Identifiers: chr15:g.43545913C>G (hg19) ; chr15:g.43253715C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253715C>G , CM000677.2:g.43253715C>G	GRCh38
NC_000015.9:g.43545913C>G , CM000677.1:g.43545913C>G	GRCh37
NC_000015.8:g.41333205C>G	NCBI36
NG_016124.1:g.18143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.556-81G>C MANE Select	ENSP00000220420.5:n.556-81G>C
ENST00000220420.9:c.556-81G>C	ENSP00000220420.5:n.556-81G>C
ENST00000349114.8:c.310-81G>C	ENSP00000220419.8:n.310-81G>C
ENST00000610827.4:c.553-81G>C	ENSP00000479732.1:n.553-81G>C
ENST00000611276.4:c.307-81G>C	ENSP00000482542.1:n.307-81G>C
ENST00000622115.1:c.559-81G>C	ENSP00000479638.1:n.559-81G>C
NM_004245.3:c.310-81G>C	NP_004236.1:n.310-81G>C
NM_201631.3:c.556-81G>C	NP_963925.2:n.556-81G>C
XM_011522229.1:c.556-81G>C	XP_011520531.1:n.556-81G>C
XR_931948.1:n.730-81G>C
NM_004245.4:c.310-81G>C	NP_004236.1:n.310-81G>C
NM_201631.4:c.556-81G>C MANE Select	NP_963925.2:n.556-81G>C