Canonical Allele Identifier: CA2692610988
Gene: PMPCA HGNC NCBI

Linked Data

gnomAD v4: 9-136410635-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136410635G>A , CM000671.2:g.136410635G>A GRCh38
NC_000009.11:g.139305087G>A , CM000671.1:g.139305087G>A GRCh37
NC_000009.10:g.138424908G>A NCBI36
NG_046789.1:g.5063G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000706227.1:c.-34G>A ENSP00000516285.1:n.-34G>A
ENST00000706228.1:c.-34G>A ENSP00000516286.1:n.-34G>A
ENST00000706375.1:c.-34G>A ENSP00000516357.1:n.-34G>A
ENST00000371717.7:c.-34G>A ENSP00000360782.3:n.-34G>A
NM_001282944.1:c.-332G>A NP_001269873.1:n.-332G>A
NM_001282946.1:c.-332G>A NP_001269875.1:n.-332G>A
NM_015160.2:c.-34G>A NP_055975.1:n.-34G>A
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