Canonical Allele Identifier: CA2631641343
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797609-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797609T>G , CM000678.2:g.8797609T>G GRCh38
NC_000016.9:g.8891466T>G , CM000678.1:g.8891466T>G GRCh37
NC_000016.8:g.8798967T>G NCBI36
NG_009209.1:g.4797T>G
NG_033146.1:g.5040A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.3+3A>C (TMEM186) MANE Select ENSP00000331640.6:n.3+3A>C
ENST00000333050.6:c.3+3A>C (TMEM186) ENSP00000331640.6:n.3+3A>C
ENST00000564869.1:n.31+3A>C (TMEM186)
ENST00000566983.5:c.-15-4190T>G (PMM2) ENSP00000457956.1:n.-15-4190T>G
NM_015421.3:c.3+3A>C (TMEM186) NP_056236.2:n.3+3A>C
NM_015421.4:c.3+3A>C (TMEM186) MANE Select NP_056236.2:n.3+3A>C
Search 100 bp 5'
Search 100 bp 3'