Canonical Allele Identifier: CA2658445724
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29062319-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29062319C>T , CM000664.2:g.29062319C>T GRCh38
NC_000002.11:g.29285185C>T , CM000664.1:g.29285185C>T GRCh37
NC_000002.10:g.29138689C>T NCBI36
NG_021427.1:g.16943G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.*2550G>A MANE Select ENSP00000332809.4:n.*2550G>A
ENST00000331664.5:c.6417G>A ENSP00000332809.4:n.6417G>A
NM_001029883.2:c.6417G>A NP_001025054.1:n.6417G>A
XM_011532826.1:c.*382-664G>A XP_011531128.1:n.*382-664G>A
NM_001029883.3:c.*2550G>A MANE Select NP_001025054.1:n.*2550G>A
Search 100 bp 5'
Search 100 bp 3'