Canonical Allele Identifier: CA958983064
Gene: GPC6 HGNC NCBI

Linked Data

dbSNP Id: rs1878125644
gnomAD v3: 13-93286389-G-A
gnomAD v4: 13-93286389-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.93286389G>A , CM000675.2:g.93286389G>A GRCh38
NC_000013.10:g.93938642G>A , CM000675.1:g.93938642G>A GRCh37
NC_000013.9:g.92736643G>A NCBI36
NG_011880.1:g.64565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377047.9:c.160+58773G>A MANE Select ENSP00000366246.3:n.160+58773G>A
ENST00000377047.8:c.160+58773G>A ENSP00000366246.3:n.160+58773G>A
NM_005708.3:c.160+58773G>A NP_005699.1:n.160+58773G>A
NM_005708.4:c.160+58773G>A NP_005699.1:n.160+58773G>A
XM_017020299.2:c.-51+20432G>A XP_016875788.1:n.-51+20432G>A
NM_005708.5:c.160+58773G>A MANE Select NP_005699.1:n.160+58773G>A
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