Canonical Allele Identifier: CA390257328
Community Standard Title: NM_020806.5(GPHN):c.1223G>A (p.Gly408Asp)
Gene: GPHN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67089061G>A , CM000676.2:g.67089061G>A GRCh38
NC_000014.8:g.67555778G>A , CM000676.1:g.67555778G>A GRCh37
NC_000014.7:g.66625531G>A NCBI36
NG_008875.1:g.586654G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020806.5:c.1223G>A MANE Select NP_065857.1:p.Gly408Asp
ENST00000478722.6:c.1223G>A MANE Select ENSP00000417901.1:p.Gly408Asp
NM_001024218.1:c.1124G>A NP_001019389.1:p.Gly375Asp
NM_001024218.2:c.1124G>A NP_001019389.1:p.Gly375Asp
NM_001377514.1:c.1283G>A NP_001364443.1:p.Gly428Asp
NM_001377515.1:c.1253G>A NP_001364444.1:p.Gly418Asp
NM_001377516.1:c.1244G>A NP_001364445.1:p.Gly415Asp
NM_001377517.1:c.1196G>A NP_001364446.1:p.Gly399Asp
NM_001377518.1:c.1181G>A NP_001364447.1:p.Gly394Asp
NM_001377519.1:c.1163G>A NP_001364448.1:p.Gly388Asp
NM_020806.4:c.1223G>A NP_065857.1:p.Gly408Asp
ENST00000315266.9:c.1124G>A ENSP00000312771.5:p.Gly375Asp
ENST00000478722.5:c.1223G>A ENSP00000417901.1:p.Gly408Asp
ENST00000543237.5:c.1262G>A ENSP00000438404.1:p.Gly421Asp
ENST00000544752.6:n.1271G>A
ENST00000556501.1:n.217G>A
XM_005267254.2:c.1181G>A XP_005267311.1:p.Gly394Asp
XM_005267254.4:c.1181G>A XP_005267311.1:p.Gly394Asp
XM_011536340.1:c.1391G>A XP_011534642.1:p.Gly464Asp
XM_011536340.3:c.1391G>A XP_011534642.1:p.Gly464Asp
XM_011536342.1:c.1352G>A XP_011534644.1:p.Gly451Asp
XM_011536342.3:c.1352G>A XP_011534644.1:p.Gly451Asp
XM_011536343.1:c.1319G>A XP_011534645.1:p.Gly440Asp
XM_011536343.3:c.1319G>A XP_011534645.1:p.Gly440Asp
XM_011536344.1:c.1292G>A XP_011534646.1:p.Gly431Asp
XM_011536344.3:c.1292G>A XP_011534646.1:p.Gly431Asp
XM_011536345.1:c.1262G>A XP_011534647.1:p.Gly421Asp
XM_011536345.3:c.1262G>A XP_011534647.1:p.Gly421Asp
XM_011536346.1:c.1253G>A XP_011534648.1:p.Gly418Asp
XM_011536346.3:c.1253G>A XP_011534648.1:p.Gly418Asp
XM_011536347.1:c.1163G>A XP_011534649.1:p.Gly388Asp
XM_011536347.2:c.1163G>A XP_011534649.1:p.Gly388Asp
XM_011536348.1:c.374G>A XP_011534650.1:p.Gly125Asp
XM_017020913.2:c.1382G>A XP_016876402.1:p.Gly461Asp
XM_017020914.2:c.1334G>A XP_016876403.1:p.Gly445Asp
XM_017020915.2:c.1283G>A XP_016876404.1:p.Gly428Asp
XM_017020916.2:c.1244G>A XP_016876405.1:p.Gly415Asp
XM_017020917.2:c.1235G>A XP_016876406.1:p.Gly412Asp
XM_017020918.2:c.1220G>A XP_016876407.1:p.Gly407Asp
XM_017020919.2:c.1196G>A XP_016876408.1:p.Gly399Asp
XM_017020920.2:c.1082G>A XP_016876409.1:p.Gly361Asp
XM_017020921.1:c.1022G>A XP_016876410.1:p.Gly341Asp
XM_017020922.1:c.1022G>A XP_016876411.1:p.Gly341Asp
XM_017020923.1:c.893G>A XP_016876412.1:p.Gly298Asp
XM_017020924.1:c.374G>A XP_016876413.1:p.Gly125Asp
XM_017020925.2:c.1312+30275G>A XP_016876414.1:n.1312+30275G>A
XM_017020926.1:c.302G>A XP_016876415.1:p.Gly101Asp
XR_943947.1:n.402+11197C>T
XR_943948.1:n.1072+11197C>T