Canonical Allele Identifier: CA394694741
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797613A>T , CM000678.2:g.8797613A>T GRCh38
NC_000016.9:g.8891470A>T , CM000678.1:g.8891470A>T GRCh37
NC_000016.8:g.8798971A>T NCBI36
NG_009209.1:g.4801A>T
NG_033146.1:g.5036T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.2T>A (TMEM186) MANE Select ENSP00000331640.6:p.Met1Lys
ENST00000333050.6:c.2T>A (TMEM186) ENSP00000331640.6:p.Met1Lys
ENST00000564869.1:n.30T>A (TMEM186)
ENST00000566983.5:c.-15-4186A>T (PMM2) ENSP00000457956.1:n.-15-4186A>T
NM_015421.3:c.2T>A (TMEM186) NP_056236.2:p.Met1Lys
NM_015421.4:c.2T>A (TMEM186) MANE Select NP_056236.2:p.Met1Lys