Canonical Allele Identifier: CA12656866
Gene: TMEM176A HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150802699T>C
GRCh37 chr7:g.150499787T>C
gnomAD v2:
7:150499787 T / C
gnomAD v3:
7:150802699 T / C
gnomAD v4:
chr7-150802699-T-C
Joint Max Group AF 0.74292968 (SAS)
Genomes Max Group AF 0.74065032 (SAS)
Exomes Max Group AF 0.74328736 (MID)
dbSNP:
714885
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150802699T>C , CM000669.2:g.150802699T>C GRCh38
NC_000007.13:g.150499787T>C , CM000669.1:g.150499787T>C GRCh37
NC_000007.12:g.150130720T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000004103.8:c.285+374T>C MANE Select ENSP00000004103.3:n.285+374T>C
ENST00000468689.2:c.108+374T>C ENSP00000420081.2:n.108+374T>C
ENST00000004103.7:c.285+374T>C ENSP00000004103.3:n.285+374T>C
ENST00000461345.5:c.108+374T>C ENSP00000420818.1:n.108+374T>C
ENST00000462826.1:n.644T>C
ENST00000468689.1:c.108+374T>C ENSP00000420081.1:n.108+374T>C
ENST00000475536.5:c.141+374T>C ENSP00000417834.1:n.141+374T>C
ENST00000484928.5:c.285+374T>C ENSP00000417626.1:n.285+374T>C
ENST00000494349.5:n.831+374T>C
NM_018487.2:c.285+374T>C NP_060957.2:n.285+374T>C
XM_011516376.1:c.336+374T>C XP_011514678.1:n.336+374T>C
XM_011516377.1:c.336+374T>C XP_011514679.1:n.336+374T>C
XM_011516378.1:c.336+374T>C XP_011514680.1:n.336+374T>C
XM_011516379.1:c.337-16T>C XP_011514681.1:n.337-16T>C
XM_011516376.3:c.336+374T>C XP_011514678.1:n.336+374T>C
XM_011516377.2:c.336+374T>C XP_011514679.1:n.336+374T>C
XM_011516378.2:c.336+374T>C XP_011514680.1:n.336+374T>C
XM_017012393.1:c.285+374T>C XP_016867882.1:n.285+374T>C
XM_024446824.1:c.285+374T>C XP_024302592.1:n.285+374T>C
NM_018487.3:c.285+374T>C MANE Select NP_060957.2:n.285+374T>C
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