Canonical Allele Identifier: CA7521089

Gene: TGM5

Linked Data

• ClinVar Variation Id: 316049
• ClinVar RCV Id: RCV000396342
• dbSNP Id: rs150457385
• ExAC: 15:43531362 G / A
• gnomAD v2: 15-43531362-G-A
• gnomAD v3: 15-43239164-G-A
• gnomAD v4: 15-43239164-G-A
• MyVariant Identifiers: chr15:g.43531362G>A (hg19) ; chr15:g.43239164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43239164G>A , CM000677.2:g.43239164G>A	GRCh38
NC_000015.9:g.43531362G>A , CM000677.1:g.43531362G>A	GRCh37
NC_000015.8:g.41318654G>A	NCBI36
NG_016124.1:g.32694C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.1104C>T MANE Select	ENSP00000220420.5:p.Asn368=
ENST00000220420.9:c.1104C>T	ENSP00000220420.5:p.Asn368=
ENST00000349114.8:c.858C>T	ENSP00000220419.8:p.Asn286=
ENST00000396996.3:n.580C>T
ENST00000563838.1:n.337C>T
ENST00000610827.4:c.1101C>T	ENSP00000479732.1:p.Asn367=
ENST00000611276.4:c.855C>T	ENSP00000482542.1:p.Asn285=
ENST00000622115.1:c.1107C>T	ENSP00000479638.1:p.Asn369=
NM_004245.3:c.858C>T	NP_004236.1:p.Asn286=
NM_201631.3:c.1104C>T	NP_963925.2:p.Asn368=
XM_011522229.1:c.1104C>T	XP_011520531.1:p.Asn368=
XM_011522230.1:c.75C>T	XP_011520532.1:p.Asn25=
XR_931948.1:n.1278C>T
XM_011522230.2:c.75C>T	XP_011520532.1:p.Asn25=
XM_017022729.1:c.75C>T	XP_016878218.1:p.Asn25=
NM_004245.4:c.858C>T	NP_004236.1:p.Asn286=
NM_201631.4:c.1104C>T MANE Select	NP_963925.2:p.Asn368=