Canonical Allele Identifier: CA2658445884
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29062391-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29062391A>G , CM000664.2:g.29062391A>G GRCh38
NC_000002.11:g.29285257A>G , CM000664.1:g.29285257A>G GRCh37
NC_000002.10:g.29138761A>G NCBI36
NG_021427.1:g.16871T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.*2478T>C MANE Select ENSP00000332809.4:n.*2478T>C
ENST00000331664.5:c.6345T>C ENSP00000332809.4:n.6345T>C
NM_001029883.2:c.6345T>C NP_001025054.1:n.6345T>C
XM_011532826.1:c.*382-736T>C XP_011531128.1:n.*382-736T>C
NM_001029883.3:c.*2478T>C MANE Select NP_001025054.1:n.*2478T>C
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