Canonical Allele Identifier: CA254938133
Gene: GPC6 HGNC NCBI

Linked Data

dbSNP Id: rs533268782
gnomAD v3: 13-93286362-C-A
gnomAD v4: 13-93286362-C-A
MyVariant Identifiers: chr13:g.93938615C>A (hg19) chr13:g.93286362C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.93286362C>A , CM000675.2:g.93286362C>A GRCh38
NC_000013.10:g.93938615C>A , CM000675.1:g.93938615C>A GRCh37
NC_000013.9:g.92736616C>A NCBI36
NG_011880.1:g.64538C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377047.9:c.160+58746C>A MANE Select ENSP00000366246.3:n.160+58746C>A
ENST00000377047.8:c.160+58746C>A ENSP00000366246.3:n.160+58746C>A
NM_005708.3:c.160+58746C>A NP_005699.1:n.160+58746C>A
NM_005708.4:c.160+58746C>A NP_005699.1:n.160+58746C>A
XM_017020299.2:c.-51+20405C>A XP_016875788.1:n.-51+20405C>A
NM_005708.5:c.160+58746C>A MANE Select NP_005699.1:n.160+58746C>A
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