Canonical Allele Identifier: CA958926485
Gene: GPC5 HGNC NCBI

Linked Data

dbSNP Id: rs1886726654
gnomAD v3: 13-92670910-C-A
gnomAD v4: 13-92670910-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.92670910C>A , CM000675.2:g.92670910C>A GRCh38
NC_000013.10:g.93323163C>A , CM000675.1:g.93323163C>A GRCh37
NC_000013.9:g.92121164C>A NCBI36
NG_009370.1:g.1277229C>A
NG_009370.2:g.1277230C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377067.9:c.1562-195372C>A MANE Select ENSP00000366267.3:n.1562-195372C>A
ENST00000377067.8:c.1562-195372C>A ENSP00000366267.3:n.1562-195372C>A
NM_004466.5:c.1562-195372C>A NP_004457.1:n.1562-195372C>A
XR_931643.1:n.173+6608G>T
XR_931644.1:n.173+6608G>T
XM_017020435.2:c.1562-79054C>A XP_016875924.1:n.1562-79054C>A
XR_931643.3:n.2210+6608G>T
XR_931644.2:n.2210+6608G>T
NM_004466.6:c.1562-195372C>A MANE Select NP_004457.1:n.1562-195372C>A
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