Canonical Allele Identifier: CA2631641324
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797603-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797603C>A , CM000678.2:g.8797603C>A GRCh38
NC_000016.9:g.8891460C>A , CM000678.1:g.8891460C>A GRCh37
NC_000016.8:g.8798961C>A NCBI36
NG_009209.1:g.4791C>A
NG_033146.1:g.5046G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.3+9G>T (TMEM186) MANE Select ENSP00000331640.6:n.3+9G>T
ENST00000333050.6:c.3+9G>T (TMEM186) ENSP00000331640.6:n.3+9G>T
ENST00000564869.1:n.31+9G>T (TMEM186)
ENST00000566983.5:c.-15-4196C>A (PMM2) ENSP00000457956.1:n.-15-4196C>A
NM_015421.3:c.3+9G>T (TMEM186) NP_056236.2:n.3+9G>T
NM_015421.4:c.3+9G>T (TMEM186) MANE Select NP_056236.2:n.3+9G>T