Canonical Allele Identifier: CA632705477

Gene: PEPD

Linked Data

• dbSNP Id: rs1364307978
• gnomAD v2: 19-34012701-G-A
• gnomAD v4: 19-33521795-G-A
• MyVariant Identifiers: chr19:g.34012701G>A (hg19) ; chr19:g.33521795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521795G>A , CM000681.2:g.33521795G>A	GRCh38
NC_000019.9:g.34012701G>A , CM000681.1:g.34012701G>A	GRCh37
NC_000019.8:g.38704541G>A	NCBI36
NG_013358.1:g.5099C>T
NG_013358.2:g.5099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698360.1:c.-35C>T	ENSP00000513683.1:n.-35C>T
ENST00000698361.1:c.-35C>T	ENSP00000513684.1:n.-35C>T
ENST00000698362.1:c.-35C>T	ENSP00000513685.1:n.-35C>T
ENST00000698363.1:n.29C>T
ENST00000698364.1:n.29C>T
ENST00000698365.1:n.29C>T
ENST00000698436.1:c.-35C>T	ENSP00000513720.1:n.-35C>T
NM_000285.3:c.-35C>T	NP_000276.2:n.-35C>T
NM_001166056.1:c.-35C>T	NP_001159528.1:n.-35C>T
NM_001166057.1:c.-35C>T	NP_001159529.1:n.-35C>T