Canonical Allele Identifier: CA632705485

Gene: PEPD

Linked Data

• dbSNP Id: rs1315703949
• gnomAD v2: 19-34012783-C-G
• gnomAD v4: 19-33521877-C-G
• MyVariant Identifiers: chr19:g.34012783C>G (hg19) ; chr19:g.33521877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521877C>G , CM000681.2:g.33521877C>G	GRCh38
NC_000019.9:g.34012783C>G , CM000681.1:g.34012783C>G	GRCh37
NC_000019.8:g.38704623C>G	NCBI36
NG_013358.1:g.5017G>C
NG_013358.2:g.5017G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000285.3:c.-117G>C	NP_000276.2:n.-117G>C
NM_001166056.1:c.-117G>C	NP_001159528.1:n.-117G>C
NM_001166057.1:c.-117G>C	NP_001159529.1:n.-117G>C