Canonical Allele Identifier: CA2631641424
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797643-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797643T>C , CM000678.2:g.8797643T>C GRCh38
NC_000016.9:g.8891500T>C , CM000678.1:g.8891500T>C GRCh37
NC_000016.8:g.8799001T>C NCBI36
NG_009209.1:g.4831T>C
NG_033146.1:g.5006A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.6:c.-29A>G (TMEM186) ENSP00000331640.6:n.-29A>G
ENST00000566983.5:c.-15-4156T>C (PMM2) ENSP00000457956.1:n.-15-4156T>C
NM_015421.3:c.-29A>G (TMEM186) NP_056236.2:n.-29A>G