Canonical Allele Identifier: CA458642965
Gene: TMEM176A HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150501530G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150804442G>C , CM000669.2:g.150804442G>C GRCh38
NC_000007.13:g.150501530G>C , CM000669.1:g.150501530G>C GRCh37
NC_000007.12:g.150132463G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000004103.8:c.636G>C MANE Select ENSP00000004103.3:p.Leu212=
ENST00000468689.2:c.459G>C ENSP00000420081.2:p.Leu153=
ENST00000004103.7:c.636G>C ENSP00000004103.3:p.Leu212=
ENST00000461345.5:c.459G>C ENSP00000420818.1:p.Leu153=
ENST00000462826.1:n.1778-385G>C
ENST00000474166.1:n.295G>C
ENST00000475007.5:n.532G>C
ENST00000475536.5:c.492G>C ENSP00000417834.1:p.Leu164=
ENST00000481305.1:n.367-385G>C
ENST00000484928.5:c.636G>C ENSP00000417626.1:p.Leu212=
ENST00000494349.5:n.1182G>C
NM_018487.2:c.636G>C NP_060957.2:p.Leu212=
XM_011516376.1:c.687G>C XP_011514678.1:p.Leu229=
XM_011516377.1:c.687G>C XP_011514679.1:p.Leu229=
XM_011516378.1:c.607-385G>C XP_011514680.1:n.607-385G>C
XM_011516376.3:c.687G>C XP_011514678.1:p.Leu229=
XM_011516377.2:c.687G>C XP_011514679.1:p.Leu229=
XM_011516378.2:c.607-385G>C XP_011514680.1:n.607-385G>C
XM_017012393.1:c.636G>C XP_016867882.1:p.Leu212=
XM_024446824.1:c.556-385G>C XP_024302592.1:n.556-385G>C
NM_018487.3:c.636G>C MANE Select NP_060957.2:p.Leu212=