Canonical Allele Identifier: CA2631641276
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797588-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797588A>G , CM000678.2:g.8797588A>G GRCh38
NC_000016.9:g.8891445A>G , CM000678.1:g.8891445A>G GRCh37
NC_000016.8:g.8798946A>G NCBI36
NG_009209.1:g.4776A>G
NG_033146.1:g.5061T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.3+24T>C (TMEM186) MANE Select ENSP00000331640.6:n.3+24T>C
ENST00000333050.6:c.3+24T>C (TMEM186) ENSP00000331640.6:n.3+24T>C
ENST00000564869.1:n.31+24T>C (TMEM186)
ENST00000566983.5:c.-15-4211A>G (PMM2) ENSP00000457956.1:n.-15-4211A>G
NM_015421.3:c.3+24T>C (TMEM186) NP_056236.2:n.3+24T>C
NM_015421.4:c.3+24T>C (TMEM186) MANE Select NP_056236.2:n.3+24T>C
Search 100 bp 5'
Search 100 bp 3'