Canonical Allele Identifier: CA458642915
Gene: TMEM176A HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150501473C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150804385C>G , CM000669.2:g.150804385C>G GRCh38
NC_000007.13:g.150501473C>G , CM000669.1:g.150501473C>G GRCh37
NC_000007.12:g.150132406C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000004103.8:c.579C>G MANE Select ENSP00000004103.3:p.Ala193=
ENST00000468689.2:c.402C>G ENSP00000420081.2:p.Ala134=
ENST00000004103.7:c.579C>G ENSP00000004103.3:p.Ala193=
ENST00000461345.5:c.402C>G ENSP00000420818.1:p.Ala134=
ENST00000462826.1:n.1778-442C>G
ENST00000474166.1:n.238C>G
ENST00000475007.5:n.475C>G
ENST00000475536.5:c.435C>G ENSP00000417834.1:p.Ala145=
ENST00000481305.1:n.367-442C>G
ENST00000484928.5:c.579C>G ENSP00000417626.1:p.Ala193=
ENST00000494349.5:n.1125C>G
NM_018487.2:c.579C>G NP_060957.2:p.Ala193=
XM_011516376.1:c.630C>G XP_011514678.1:p.Ala210=
XM_011516377.1:c.630C>G XP_011514679.1:p.Ala210=
XM_011516378.1:c.607-442C>G XP_011514680.1:n.607-442C>G
XM_011516376.3:c.630C>G XP_011514678.1:p.Ala210=
XM_011516377.2:c.630C>G XP_011514679.1:p.Ala210=
XM_011516378.2:c.607-442C>G XP_011514680.1:n.607-442C>G
XM_017012393.1:c.579C>G XP_016867882.1:p.Ala193=
XM_024446824.1:c.556-442C>G XP_024302592.1:n.556-442C>G
NM_018487.3:c.579C>G MANE Select NP_060957.2:p.Ala193=