Canonical Allele Identifier: CA2631641428
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797645-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797645C>G , CM000678.2:g.8797645C>G GRCh38
NC_000016.9:g.8891502C>G , CM000678.1:g.8891502C>G GRCh37
NC_000016.8:g.8799003C>G NCBI36
NG_009209.1:g.4833C>G
NG_033146.1:g.5004G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.6:c.-31G>C (TMEM186) ENSP00000331640.6:n.-31G>C
ENST00000566983.5:c.-15-4154C>G (PMM2) ENSP00000457956.1:n.-15-4154C>G
NM_015421.3:c.-31G>C (TMEM186) NP_056236.2:n.-31G>C