Canonical Allele Identifier: CA1752367274
Gene: TMEM176A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150804390T= , CM000669.2:g.150804390T= GRCh38
NC_000007.13:g.150501478T= , CM000669.1:g.150501478T= GRCh37
NC_000007.12:g.150132411T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000004103.8:c.584T= MANE Select ENSP00000004103.3:p.Leu195=
ENST00000468689.2:c.407T= ENSP00000420081.2:p.Leu136=
ENST00000004103.7:c.584T= ENSP00000004103.3:p.Leu195=
ENST00000461345.5:c.407T= ENSP00000420818.1:p.Leu136=
ENST00000462826.1:n.1778-437T=
ENST00000474166.1:n.243T=
ENST00000475007.5:n.480T=
ENST00000475536.5:c.440T= ENSP00000417834.1:p.Leu147=
ENST00000481305.1:n.367-437T=
ENST00000484928.5:c.584T= ENSP00000417626.1:p.Leu195=
ENST00000494349.5:n.1130T=
NM_018487.2:c.584T= NP_060957.2:p.Leu195=
XM_011516376.1:c.635T= XP_011514678.1:p.Leu212=
XM_011516377.1:c.635T= XP_011514679.1:p.Leu212=
XM_011516378.1:c.607-437T= XP_011514680.1:n.607-437T=
XM_011516376.3:c.635T= XP_011514678.1:p.Leu212=
XM_011516377.2:c.635T= XP_011514679.1:p.Leu212=
XM_011516378.2:c.607-437T= XP_011514680.1:n.607-437T=
XM_017012393.1:c.584T= XP_016867882.1:p.Leu195=
XM_024446824.1:c.556-437T= XP_024302592.1:n.556-437T=
NM_018487.3:c.584T= MANE Select NP_060957.2:p.Leu195=