Canonical Allele Identifier: CA2692611077

Gene: PMPCA

Linked Data

• gnomAD v4: 9-136410644-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136410644G>A , CM000671.2:g.136410644G>A	GRCh38
NC_000009.11:g.139305096G>A , CM000671.1:g.139305096G>A	GRCh37
NC_000009.10:g.138424917G>A	NCBI36
NG_046789.1:g.5072G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000444897.3:c.-25G>A	ENSP00000408393.2:n.-25G>A
ENST00000612553.5:n.4G>A
ENST00000706227.1:c.-25G>A	ENSP00000516285.1:n.-25G>A
ENST00000706228.1:c.-25G>A	ENSP00000516286.1:n.-25G>A
ENST00000706375.1:c.-25G>A	ENSP00000516357.1:n.-25G>A
ENST00000706376.1:c.-25G>A	ENSP00000516358.1:n.-25G>A
ENST00000706377.1:c.-25G>A	ENSP00000516359.1:n.-25G>A
ENST00000706378.1:n.4G>A
ENST00000706379.1:c.-25G>A	ENSP00000516360.1:n.-25G>A
ENST00000706380.1:c.-25G>A	ENSP00000516361.1:n.-25G>A
ENST00000706381.1:n.1G>A
ENST00000706382.1:n.1G>A
ENST00000706383.1:n.1G>A
ENST00000706384.1:c.-25G>A	ENSP00000516362.1:n.-25G>A
ENST00000706385.1:c.-25G>A	ENSP00000516363.1:n.-25G>A
ENST00000706386.1:c.-25G>A	ENSP00000516364.1:n.-25G>A
ENST00000706387.1:c.-25G>A	ENSP00000516365.1:n.-25G>A
ENST00000706388.1:c.-25G>A	ENSP00000516366.1:n.-25G>A
ENST00000371717.7:c.-25G>A	ENSP00000360782.3:n.-25G>A
ENST00000612553.4:n.4G>A
ENST00000619192.4:n.1G>A
NM_001282944.1:c.-323G>A	NP_001269873.1:n.-323G>A
NM_001282946.1:c.-323G>A	NP_001269875.1:n.-323G>A
NM_015160.2:c.-25G>A	NP_055975.1:n.-25G>A