Canonical Allele Identifier: CA2631641431
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797646-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797646C>T , CM000678.2:g.8797646C>T GRCh38
NC_000016.9:g.8891503C>T , CM000678.1:g.8891503C>T GRCh37
NC_000016.8:g.8799004C>T NCBI36
NG_009209.1:g.4834C>T
NG_033146.1:g.5003G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.6:c.-32G>A (TMEM186) ENSP00000331640.6:n.-32G>A
ENST00000566983.5:c.-15-4153C>T (PMM2) ENSP00000457956.1:n.-15-4153C>T
NM_015421.3:c.-32G>A (TMEM186) NP_056236.2:n.-32G>A