Canonical Allele Identifier: CA7234244
Community Standard Title: NM_020806.5(GPHN):c.1989G>A (p.Ser663=)
Gene: GPHN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67168946G>A , CM000676.2:g.67168946G>A GRCh38
NC_000014.8:g.67635663G>A , CM000676.1:g.67635663G>A GRCh37
NC_000014.7:g.66705416G>A NCBI36
NG_008875.1:g.666539G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020806.5:c.1989G>A MANE Select NP_065857.1:p.Ser663=
ENST00000478722.6:c.1989G>A MANE Select ENSP00000417901.1:p.Ser663=
NM_001024218.1:c.1890G>A NP_001019389.1:p.Ser630=
NM_001024218.2:c.1890G>A NP_001019389.1:p.Ser630=
NM_001377514.1:c.2049G>A NP_001364443.1:p.Ser683=
NM_001377515.1:c.2019G>A NP_001364444.1:p.Ser673=
NM_001377516.1:c.2010G>A NP_001364445.1:p.Ser670=
NM_001377517.1:c.1962G>A NP_001364446.1:p.Ser654=
NM_001377518.1:c.1947G>A NP_001364447.1:p.Ser649=
NM_001377519.1:c.1929G>A NP_001364448.1:p.Ser643=
NM_020806.4:c.1989G>A NP_065857.1:p.Ser663=
ENST00000315266.9:c.1890G>A ENSP00000312771.5:p.Ser630=
ENST00000478722.5:c.1989G>A ENSP00000417901.1:p.Ser663=
ENST00000543237.5:c.2028G>A ENSP00000438404.1:p.Ser676=
ENST00000544752.6:n.2037G>A
ENST00000555503.1:c.465G>A ENSP00000452009.1:p.Ser155=
ENST00000555527.1:n.448G>A
XM_005267254.2:c.1947G>A XP_005267311.1:p.Ser649=
XM_005267254.4:c.1947G>A XP_005267311.1:p.Ser649=
XM_011536340.1:c.2157G>A XP_011534642.1:p.Ser719=
XM_011536340.3:c.2157G>A XP_011534642.1:p.Ser719=
XM_011536342.1:c.2118G>A XP_011534644.1:p.Ser706=
XM_011536342.3:c.2118G>A XP_011534644.1:p.Ser706=
XM_011536343.1:c.2085G>A XP_011534645.1:p.Ser695=
XM_011536343.3:c.2085G>A XP_011534645.1:p.Ser695=
XM_011536344.1:c.2058G>A XP_011534646.1:p.Ser686=
XM_011536344.3:c.2058G>A XP_011534646.1:p.Ser686=
XM_011536345.1:c.2028G>A XP_011534647.1:p.Ser676=
XM_011536345.3:c.2028G>A XP_011534647.1:p.Ser676=
XM_011536346.1:c.2019G>A XP_011534648.1:p.Ser673=
XM_011536346.3:c.2019G>A XP_011534648.1:p.Ser673=
XM_011536347.1:c.1929G>A XP_011534649.1:p.Ser643=
XM_011536347.2:c.1929G>A XP_011534649.1:p.Ser643=
XM_011536348.1:c.1140G>A XP_011534650.1:p.Ser380=
XM_017020913.2:c.2148G>A XP_016876402.1:p.Ser716=
XM_017020914.2:c.2100G>A XP_016876403.1:p.Ser700=
XM_017020915.2:c.2049G>A XP_016876404.1:p.Ser683=
XM_017020916.2:c.2010G>A XP_016876405.1:p.Ser670=
XM_017020917.2:c.2001G>A XP_016876406.1:p.Ser667=
XM_017020918.2:c.1986G>A XP_016876407.1:p.Ser662=
XM_017020919.2:c.1962G>A XP_016876408.1:p.Ser654=
XM_017020920.2:c.1848G>A XP_016876409.1:p.Ser616=
XM_017020921.1:c.1788G>A XP_016876410.1:p.Ser596=
XM_017020922.1:c.1788G>A XP_016876411.1:p.Ser596=
XM_017020923.1:c.1659G>A XP_016876412.1:p.Ser553=
XM_017020924.1:c.1140G>A XP_016876413.1:p.Ser380=
XM_017020925.2:c.1312+110160G>A XP_016876414.1:n.1312+110160G>A
XM_017020926.1:c.1068G>A XP_016876415.1:p.Ser356=
XR_001750990.1:n.86-15096C>T
XR_943947.1:n.123-15096C>T
XR_943949.1:n.123-15096C>T