Canonical Allele Identifier: CA2692611071

Gene: PMPCA

Linked Data

• gnomAD v4: 9-136410643-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136410643C>T , CM000671.2:g.136410643C>T	GRCh38
NC_000009.11:g.139305095C>T , CM000671.1:g.139305095C>T	GRCh37
NC_000009.10:g.138424916C>T	NCBI36
NG_046789.1:g.5071C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000444897.3:c.-26C>T	ENSP00000408393.2:n.-26C>T
ENST00000612553.5:n.3C>T
ENST00000706227.1:c.-26C>T	ENSP00000516285.1:n.-26C>T
ENST00000706228.1:c.-26C>T	ENSP00000516286.1:n.-26C>T
ENST00000706375.1:c.-26C>T	ENSP00000516357.1:n.-26C>T
ENST00000706376.1:c.-26C>T	ENSP00000516358.1:n.-26C>T
ENST00000706377.1:c.-26C>T	ENSP00000516359.1:n.-26C>T
ENST00000706378.1:n.3C>T
ENST00000371717.7:c.-26C>T	ENSP00000360782.3:n.-26C>T
ENST00000612553.4:n.3C>T
NM_001282944.1:c.-324C>T	NP_001269873.1:n.-324C>T
NM_001282946.1:c.-324C>T	NP_001269875.1:n.-324C>T
NM_015160.2:c.-26C>T	NP_055975.1:n.-26C>T