Canonical Allele Identifier: CA7893822
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs745432642
ExAC: 16:8891501 C / T
gnomAD v2: 16-8891501-C-T
gnomAD v4: 16-8797644-C-T
MyVariant Identifiers: chr16:g.8891501C>T (hg19) chr16:g.8797644C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797644C>T , CM000678.2:g.8797644C>T GRCh38
NC_000016.9:g.8891501C>T , CM000678.1:g.8891501C>T GRCh37
NC_000016.8:g.8799002C>T NCBI36
NG_009209.1:g.4832C>T
NG_033146.1:g.5005G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.6:c.-30G>A (TMEM186) ENSP00000331640.6:n.-30G>A
ENST00000566983.5:c.-15-4155C>T (PMM2) ENSP00000457956.1:n.-15-4155C>T
NM_015421.3:c.-30G>A (TMEM186) NP_056236.2:n.-30G>A
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