Canonical Allele Identifier: CA254938136
Gene: GPC6 HGNC NCBI

Linked Data

dbSNP Id: rs550007257
gnomAD v2: 13-93938625-A-G
gnomAD v3: 13-93286372-A-G
gnomAD v4: 13-93286372-A-G
MyVariant Identifiers: chr13:g.93938625A>G (hg19) chr13:g.93286372A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.93286372A>G , CM000675.2:g.93286372A>G GRCh38
NC_000013.10:g.93938625A>G , CM000675.1:g.93938625A>G GRCh37
NC_000013.9:g.92736626A>G NCBI36
NG_011880.1:g.64548A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377047.9:c.160+58756A>G MANE Select ENSP00000366246.3:n.160+58756A>G
ENST00000377047.8:c.160+58756A>G ENSP00000366246.3:n.160+58756A>G
NM_005708.3:c.160+58756A>G NP_005699.1:n.160+58756A>G
NM_005708.4:c.160+58756A>G NP_005699.1:n.160+58756A>G
XM_017020299.2:c.-51+20415A>G XP_016875788.1:n.-51+20415A>G
NM_005708.5:c.160+58756A>G MANE Select NP_005699.1:n.160+58756A>G
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