Canonical Allele Identifier: CA632705480
Gene: PEPD HGNC NCBI

Linked Data

dbSNP Id: rs1297199685
gnomAD v2: 19-34012714-C-T
gnomAD v4: 19-33521808-C-T
MyVariant Identifiers: chr19:g.34012714C>T (hg19) chr19:g.33521808C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33521808C>T , CM000681.2:g.33521808C>T GRCh38
NC_000019.9:g.34012714C>T , CM000681.1:g.34012714C>T GRCh37
NC_000019.8:g.38704554C>T NCBI36
NG_013358.1:g.5086G>A
NG_013358.2:g.5086G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698361.1:c.-48G>A ENSP00000513684.1:n.-48G>A
ENST00000698362.1:c.-48G>A ENSP00000513685.1:n.-48G>A
ENST00000698363.1:n.16G>A
ENST00000698364.1:n.16G>A
ENST00000698365.1:n.16G>A
NM_000285.3:c.-48G>A NP_000276.2:n.-48G>A
NM_001166056.1:c.-48G>A NP_001159528.1:n.-48G>A
NM_001166057.1:c.-48G>A NP_001159529.1:n.-48G>A
Search 100 bp 5'
Search 100 bp 3'