Canonical Allele Identifier: CA1752367270

Gene: TMEM176A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804389C= , CM000669.2:g.150804389C=	GRCh38
NC_000007.13:g.150501477C= , CM000669.1:g.150501477C=	GRCh37
NC_000007.12:g.150132410C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.583C= MANE Select	ENSP00000004103.3:p.Leu195=
ENST00000468689.2:c.406C=	ENSP00000420081.2:p.Leu136=
ENST00000004103.7:c.583C=	ENSP00000004103.3:p.Leu195=
ENST00000461345.5:c.406C=	ENSP00000420818.1:p.Leu136=
ENST00000462826.1:n.1778-438C=
ENST00000474166.1:n.242C=
ENST00000475007.5:n.479C=
ENST00000475536.5:c.439C=	ENSP00000417834.1:p.Leu147=
ENST00000481305.1:n.367-438C=
ENST00000484928.5:c.583C=	ENSP00000417626.1:p.Leu195=
ENST00000494349.5:n.1129C=
NM_018487.2:c.583C=	NP_060957.2:p.Leu195=
XM_011516376.1:c.634C=	XP_011514678.1:p.Leu212=
XM_011516377.1:c.634C=	XP_011514679.1:p.Leu212=
XM_011516378.1:c.607-438C=	XP_011514680.1:n.607-438C=
XM_011516376.3:c.634C=	XP_011514678.1:p.Leu212=
XM_011516377.2:c.634C=	XP_011514679.1:p.Leu212=
XM_011516378.2:c.607-438C=	XP_011514680.1:n.607-438C=
XM_017012393.1:c.583C=	XP_016867882.1:p.Leu195=
XM_024446824.1:c.556-438C=	XP_024302592.1:n.556-438C=
NM_018487.3:c.583C= MANE Select	NP_060957.2:p.Leu195=