Canonical Allele Identifier: CA881624940

Gene: PEPD

Linked Data

• dbSNP Id: rs1366577717
• gnomAD v3: 19-33521822-G-A
• gnomAD v4: 19-33521822-G-A
• MyVariant Identifiers: chr19:g.34012728G>A (hg19) ; chr19:g.33521822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521822G>A , CM000681.2:g.33521822G>A	GRCh38
NC_000019.9:g.34012728G>A , CM000681.1:g.34012728G>A	GRCh37
NC_000019.8:g.38704568G>A	NCBI36
NG_013358.1:g.5072C>T
NG_013358.2:g.5072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698361.1:c.-62C>T	ENSP00000513684.1:n.-62C>T
ENST00000698362.1:c.-62C>T	ENSP00000513685.1:n.-62C>T
ENST00000698363.1:n.2C>T
ENST00000698364.1:n.2C>T
ENST00000698365.1:n.2C>T
NM_000285.3:c.-62C>T	NP_000276.2:n.-62C>T
NM_001166056.1:c.-62C>T	NP_001159528.1:n.-62C>T
NM_001166057.1:c.-62C>T	NP_001159529.1:n.-62C>T