Canonical Allele Identifier: CA13905590
Community Standard Title: NM_005708.5(GPC6):c.711+226T>C
Gene: GPC6 HGNC NCBI
GPC6-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.93830771T>C , CM000675.2:g.93830771T>C GRCh38
NC_000013.10:g.94483024T>C , CM000675.1:g.94483024T>C GRCh37
NC_000013.9:g.93281025T>C NCBI36
NG_011880.1:g.608947T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005708.5:c.711+226T>C (GPC6) MANE Select NP_005699.1:n.711+226T>C
ENST00000377047.9:c.711+226T>C (GPC6) MANE Select ENSP00000366246.3:n.711+226T>C
NM_005708.3:c.711+226T>C (GPC6) NP_005699.1:n.711+226T>C
NM_005708.4:c.711+226T>C (GPC6) NP_005699.1:n.711+226T>C
NR_046536.1:n.380+45A>G (GPC6-AS2)
ENST00000377047.8:c.711+226T>C (GPC6) ENSP00000366246.3:n.711+226T>C
XM_011521044.1:c.501+226T>C (GPC6) XP_011519346.1:n.501+226T>C
XM_011521044.2:c.501+226T>C (GPC6) XP_011519346.1:n.501+226T>C
XM_017020298.1:c.501+226T>C (GPC6) XP_016875787.1:n.501+226T>C
XM_017020299.2:c.501+226T>C (GPC6) XP_016875788.1:n.501+226T>C
XM_017020300.1:c.501+226T>C (GPC6) XP_016875789.1:n.501+226T>C
XM_017020301.1:c.345+226T>C (GPC6) XP_016875790.1:n.345+226T>C