Canonical Allele Identifier: CA2658445825
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29062368-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29062368G>T , CM000664.2:g.29062368G>T GRCh38
NC_000002.11:g.29285234G>T , CM000664.1:g.29285234G>T GRCh37
NC_000002.10:g.29138738G>T NCBI36
NG_021427.1:g.16894C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.*2501C>A MANE Select ENSP00000332809.4:n.*2501C>A
ENST00000331664.5:c.6368C>A ENSP00000332809.4:n.6368C>A
NM_001029883.2:c.6368C>A NP_001025054.1:n.6368C>A
XM_011532826.1:c.*382-713C>A XP_011531128.1:n.*382-713C>A
NM_001029883.3:c.*2501C>A MANE Select NP_001025054.1:n.*2501C>A
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