Canonical Allele Identifier: CA2631641299
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797595-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797595G>C , CM000678.2:g.8797595G>C GRCh38
NC_000016.9:g.8891452G>C , CM000678.1:g.8891452G>C GRCh37
NC_000016.8:g.8798953G>C NCBI36
NG_009209.1:g.4783G>C
NG_033146.1:g.5054C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.3+17C>G (TMEM186) MANE Select ENSP00000331640.6:n.3+17C>G
ENST00000333050.6:c.3+17C>G (TMEM186) ENSP00000331640.6:n.3+17C>G
ENST00000564869.1:n.31+17C>G (TMEM186)
ENST00000566983.5:c.-15-4204G>C (PMM2) ENSP00000457956.1:n.-15-4204G>C
NM_015421.3:c.3+17C>G (TMEM186) NP_056236.2:n.3+17C>G
NM_015421.4:c.3+17C>G (TMEM186) MANE Select NP_056236.2:n.3+17C>G
Search 100 bp 5'
Search 100 bp 3'