Canonical Allele Identifier: CA2631641399
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797628-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797628G>T , CM000678.2:g.8797628G>T GRCh38
NC_000016.9:g.8891485G>T , CM000678.1:g.8891485G>T GRCh37
NC_000016.8:g.8798986G>T NCBI36
NG_009209.1:g.4816G>T
NG_033146.1:g.5021C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.-14C>A (TMEM186) MANE Select ENSP00000331640.6:n.-14C>A
ENST00000333050.6:c.-14C>A (TMEM186) ENSP00000331640.6:n.-14C>A
ENST00000564869.1:n.15C>A (TMEM186)
ENST00000566983.5:c.-15-4171G>T (PMM2) ENSP00000457956.1:n.-15-4171G>T
NM_015421.3:c.-14C>A (TMEM186) NP_056236.2:n.-14C>A
NM_015421.4:c.-14C>A (TMEM186) MANE Select NP_056236.2:n.-14C>A
Search 100 bp 5'
Search 100 bp 3'