Canonical Allele Identifier: CA702413235
Gene: GPC6 HGNC NCBI

Linked Data

dbSNP Id: rs1254262815
gnomAD v3: 13-93286380-G-T
gnomAD v4: 13-93286380-G-T
MyVariant Identifiers: chr13:g.93938633G>T (hg19) chr13:g.93286380G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.93286380G>T , CM000675.2:g.93286380G>T GRCh38
NC_000013.10:g.93938633G>T , CM000675.1:g.93938633G>T GRCh37
NC_000013.9:g.92736634G>T NCBI36
NG_011880.1:g.64556G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377047.9:c.160+58764G>T MANE Select ENSP00000366246.3:n.160+58764G>T
ENST00000377047.8:c.160+58764G>T ENSP00000366246.3:n.160+58764G>T
NM_005708.3:c.160+58764G>T NP_005699.1:n.160+58764G>T
NM_005708.4:c.160+58764G>T NP_005699.1:n.160+58764G>T
XM_017020299.2:c.-51+20423G>T XP_016875788.1:n.-51+20423G>T
NM_005708.5:c.160+58764G>T MANE Select NP_005699.1:n.160+58764G>T
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