Canonical Allele Identifier: CA346472918
Gene: PCARE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070709T>A , CM000664.2:g.29070709T>A GRCh38
NC_000002.11:g.29293575T>A , CM000664.1:g.29293575T>A GRCh37
NC_000002.10:g.29147079T>A NCBI36
NG_021427.1:g.8553A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3553A>T MANE Select ENSP00000332809.4:p.Asn1185Tyr
ENST00000331664.5:c.3553A>T ENSP00000332809.4:p.Asn1185Tyr
NM_001029883.2:c.3553A>T NP_001025054.1:p.Asn1185Tyr
XM_011532826.1:c.3553A>T XP_011531128.1:p.Asn1185Tyr
XR_939901.1:n.185+1542T>A
XR_939902.1:n.173+1554T>A
NM_001029883.3:c.3553A>T MANE Select NP_001025054.1:p.Asn1185Tyr