Canonical Allele Identifier: CA369842980

Gene: TMEM176A

Linked Data

• gnomAD v4: 7-150804382-G-T
• MyVariant Identifiers: chr7:g.150501470G>T (hg19) ; chr7:g.150804382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804382G>T , CM000669.2:g.150804382G>T	GRCh38
NC_000007.13:g.150501470G>T , CM000669.1:g.150501470G>T	GRCh37
NC_000007.12:g.150132403G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.576G>T MANE Select	ENSP00000004103.3:p.Gln192His
ENST00000468689.2:c.399G>T	ENSP00000420081.2:p.Gln133His
ENST00000004103.7:c.576G>T	ENSP00000004103.3:p.Gln192His
ENST00000461345.5:c.399G>T	ENSP00000420818.1:p.Gln133His
ENST00000462826.1:n.1778-445G>T
ENST00000474166.1:n.235G>T
ENST00000475007.5:n.472G>T
ENST00000475536.5:c.432G>T	ENSP00000417834.1:p.Gln144His
ENST00000481305.1:n.367-445G>T
ENST00000484928.5:c.576G>T	ENSP00000417626.1:p.Gln192His
ENST00000494349.5:n.1122G>T
NM_018487.2:c.576G>T	NP_060957.2:p.Gln192His
XM_011516376.1:c.627G>T	XP_011514678.1:p.Gln209His
XM_011516377.1:c.627G>T	XP_011514679.1:p.Gln209His
XM_011516378.1:c.607-445G>T	XP_011514680.1:n.607-445G>T
XM_011516376.3:c.627G>T	XP_011514678.1:p.Gln209His
XM_011516377.2:c.627G>T	XP_011514679.1:p.Gln209His
XM_011516378.2:c.607-445G>T	XP_011514680.1:n.607-445G>T
XM_017012393.1:c.576G>T	XP_016867882.1:p.Gln192His
XM_024446824.1:c.556-445G>T	XP_024302592.1:n.556-445G>T
NM_018487.3:c.576G>T MANE Select	NP_060957.2:p.Gln192His