Canonical Allele Identifier: CA369842965
Gene: TMEM176A HGNC NCBI

Linked Data

COSMIC: COSM745993

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150804375C>G , CM000669.2:g.150804375C>G GRCh38
NC_000007.13:g.150501463C>G , CM000669.1:g.150501463C>G GRCh37
NC_000007.12:g.150132396C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000004103.8:c.569C>G MANE Select ENSP00000004103.3:p.Thr190Ser
ENST00000468689.2:c.392C>G ENSP00000420081.2:p.Thr131Ser
ENST00000004103.7:c.569C>G ENSP00000004103.3:p.Thr190Ser
ENST00000461345.5:c.392C>G ENSP00000420818.1:p.Thr131Ser
ENST00000462826.1:n.1778-452C>G
ENST00000474166.1:n.228C>G
ENST00000475007.5:n.465C>G
ENST00000475536.5:c.425C>G ENSP00000417834.1:p.Thr142Ser
ENST00000481305.1:n.367-452C>G
ENST00000484928.5:c.569C>G ENSP00000417626.1:p.Thr190Ser
ENST00000494349.5:n.1115C>G
NM_018487.2:c.569C>G NP_060957.2:p.Thr190Ser
XM_011516376.1:c.620C>G XP_011514678.1:p.Thr207Ser
XM_011516377.1:c.620C>G XP_011514679.1:p.Thr207Ser
XM_011516378.1:c.607-452C>G XP_011514680.1:n.607-452C>G
XM_011516376.3:c.620C>G XP_011514678.1:p.Thr207Ser
XM_011516377.2:c.620C>G XP_011514679.1:p.Thr207Ser
XM_011516378.2:c.607-452C>G XP_011514680.1:n.607-452C>G
XM_017012393.1:c.569C>G XP_016867882.1:p.Thr190Ser
XM_024446824.1:c.556-452C>G XP_024302592.1:n.556-452C>G
NM_018487.3:c.569C>G MANE Select NP_060957.2:p.Thr190Ser