Canonical Allele Identifier: CA388460796
Gene: GPC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.91399093T>C , CM000675.2:g.91399093T>C GRCh38
NC_000013.10:g.92051347T>C , CM000675.1:g.92051347T>C GRCh37
NC_000013.9:g.90849348T>C NCBI36
NG_009370.1:g.5413T>C
NG_009370.2:g.5413T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377067.9:c.47T>C MANE Select ENSP00000366267.3:p.Leu16Pro
ENST00000377067.8:c.47T>C ENSP00000366267.3:p.Leu16Pro
NM_004466.5:c.47T>C NP_004457.1:p.Leu16Pro
XM_011521054.1:c.47T>C XP_011519356.1:p.Leu16Pro
XM_011521055.1:c.47T>C XP_011519357.1:p.Leu16Pro
XM_011521056.1:c.47T>C XP_011519358.1:p.Leu16Pro
XM_011521057.1:c.47T>C XP_011519359.1:p.Leu16Pro
XM_011521058.1:c.47T>C XP_011519360.1:p.Leu16Pro
XM_011521059.1:c.47T>C XP_011519361.1:p.Leu16Pro
XM_011521060.1:c.47T>C XP_011519362.1:p.Leu16Pro
XM_011521054.3:c.47T>C XP_011519356.1:p.Leu16Pro
XM_011521055.3:c.47T>C XP_011519357.1:p.Leu16Pro
XM_011521056.3:c.47T>C XP_011519358.1:p.Leu16Pro
XM_011521057.3:c.47T>C XP_011519359.1:p.Leu16Pro
XM_011521058.2:c.47T>C XP_011519360.1:p.Leu16Pro
XM_011521059.2:c.47T>C XP_011519361.1:p.Leu16Pro
XM_011521060.2:c.47T>C XP_011519362.1:p.Leu16Pro
XM_017020435.2:c.47T>C XP_016875924.1:p.Leu16Pro
XM_017020436.2:c.47T>C XP_016875925.1:p.Leu16Pro
XM_017020437.1:c.47T>C XP_016875926.1:p.Leu16Pro
NM_004466.6:c.47T>C MANE Select NP_004457.1:p.Leu16Pro