Canonical Allele Identifier: CA4565757

Gene: TMEM176A

Linked Data

• dbSNP Id: rs9088
• ExAC: 7:150501516 A / G
• gnomAD v2: 7-150501516-A-G
• gnomAD v3: 7-150804428-A-G
• gnomAD v4: 7-150804428-A-G
• MyVariant Identifiers: chr7:g.150501516A>G (hg19) ; chr7:g.150804428A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804428A>G , CM000669.2:g.150804428A>G	GRCh38
NC_000007.13:g.150501516A>G , CM000669.1:g.150501516A>G	GRCh37
NC_000007.12:g.150132449A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.622A>G MANE Select	ENSP00000004103.3:p.Thr208Ala
ENST00000468689.2:c.445A>G	ENSP00000420081.2:p.Thr149Ala
ENST00000004103.7:c.622A>G	ENSP00000004103.3:p.Thr208Ala
ENST00000461345.5:c.445A>G	ENSP00000420818.1:p.Thr149Ala
ENST00000462826.1:n.1778-399A>G
ENST00000474166.1:n.281A>G
ENST00000475007.5:n.518A>G
ENST00000475536.5:c.478A>G	ENSP00000417834.1:p.Thr160Ala
ENST00000481305.1:n.367-399A>G
ENST00000484928.5:c.622A>G	ENSP00000417626.1:p.Thr208Ala
ENST00000494349.5:n.1168A>G
NM_018487.2:c.622A>G	NP_060957.2:p.Thr208Ala
XM_011516376.1:c.673A>G	XP_011514678.1:p.Thr225Ala
XM_011516377.1:c.673A>G	XP_011514679.1:p.Thr225Ala
XM_011516378.1:c.607-399A>G	XP_011514680.1:n.607-399A>G
XM_011516376.3:c.673A>G	XP_011514678.1:p.Thr225Ala
XM_011516377.2:c.673A>G	XP_011514679.1:p.Thr225Ala
XM_011516378.2:c.607-399A>G	XP_011514680.1:n.607-399A>G
XM_017012393.1:c.622A>G	XP_016867882.1:p.Thr208Ala
XM_024446824.1:c.556-399A>G	XP_024302592.1:n.556-399A>G
NM_018487.3:c.622A>G MANE Select	NP_060957.2:p.Thr208Ala