Canonical Allele Identifier: CA390122122
Community Standard Title: NM_020806.5(GPHN):c.2079+2T>C
Gene: GPHN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67169038T>C , CM000676.2:g.67169038T>C GRCh38
NC_000014.8:g.67635755T>C , CM000676.1:g.67635755T>C GRCh37
NC_000014.7:g.66705508T>C NCBI36
NG_008875.1:g.666631T>C

Transcript Alleles

HGVS Amino-acid Change
NM_020806.5:c.2079+2T>C MANE Select NP_065857.1:n.2079+2T>C
ENST00000478722.6:c.2079+2T>C MANE Select ENSP00000417901.1:n.2079+2T>C
NM_001024218.1:c.1980+2T>C NP_001019389.1:n.1980+2T>C
NM_001024218.2:c.1980+2T>C NP_001019389.1:n.1980+2T>C
NM_001377514.1:c.2139+2T>C NP_001364443.1:n.2139+2T>C
NM_001377515.1:c.2109+2T>C NP_001364444.1:n.2109+2T>C
NM_001377516.1:c.2100+2T>C NP_001364445.1:n.2100+2T>C
NM_001377517.1:c.2052+2T>C NP_001364446.1:n.2052+2T>C
NM_001377518.1:c.2037+2T>C NP_001364447.1:n.2037+2T>C
NM_001377519.1:c.2019+2T>C NP_001364448.1:n.2019+2T>C
NM_020806.4:c.2079+2T>C NP_065857.1:n.2079+2T>C
ENST00000315266.9:c.1980+2T>C ENSP00000312771.5:n.1980+2T>C
ENST00000478722.5:c.2079+2T>C ENSP00000417901.1:n.2079+2T>C
ENST00000543237.5:c.2118+2T>C ENSP00000438404.1:n.2118+2T>C
ENST00000544752.6:n.2127+2T>C
ENST00000555503.1:c.557T>C ENSP00000452009.1:p.Val186Ala
XM_005267254.2:c.2037+2T>C XP_005267311.1:n.2037+2T>C
XM_005267254.4:c.2037+2T>C XP_005267311.1:n.2037+2T>C
XM_011536340.1:c.2247+2T>C XP_011534642.1:n.2247+2T>C
XM_011536340.3:c.2247+2T>C XP_011534642.1:n.2247+2T>C
XM_011536342.1:c.2208+2T>C XP_011534644.1:n.2208+2T>C
XM_011536342.3:c.2208+2T>C XP_011534644.1:n.2208+2T>C
XM_011536343.1:c.2175+2T>C XP_011534645.1:n.2175+2T>C
XM_011536343.3:c.2175+2T>C XP_011534645.1:n.2175+2T>C
XM_011536344.1:c.2148+2T>C XP_011534646.1:n.2148+2T>C
XM_011536344.3:c.2148+2T>C XP_011534646.1:n.2148+2T>C
XM_011536345.1:c.2118+2T>C XP_011534647.1:n.2118+2T>C
XM_011536345.3:c.2118+2T>C XP_011534647.1:n.2118+2T>C
XM_011536346.1:c.2109+2T>C XP_011534648.1:n.2109+2T>C
XM_011536346.3:c.2109+2T>C XP_011534648.1:n.2109+2T>C
XM_011536347.1:c.2019+2T>C XP_011534649.1:n.2019+2T>C
XM_011536347.2:c.2019+2T>C XP_011534649.1:n.2019+2T>C
XM_011536348.1:c.1230+2T>C XP_011534650.1:n.1230+2T>C
XM_017020913.2:c.2238+2T>C XP_016876402.1:n.2238+2T>C
XM_017020914.2:c.2190+2T>C XP_016876403.1:n.2190+2T>C
XM_017020915.2:c.2139+2T>C XP_016876404.1:n.2139+2T>C
XM_017020916.2:c.2100+2T>C XP_016876405.1:n.2100+2T>C
XM_017020917.2:c.2091+2T>C XP_016876406.1:n.2091+2T>C
XM_017020918.2:c.2076+2T>C XP_016876407.1:n.2076+2T>C
XM_017020919.2:c.2052+2T>C XP_016876408.1:n.2052+2T>C
XM_017020920.2:c.1938+2T>C XP_016876409.1:n.1938+2T>C
XM_017020921.1:c.1878+2T>C XP_016876410.1:n.1878+2T>C
XM_017020922.1:c.1878+2T>C XP_016876411.1:n.1878+2T>C
XM_017020923.1:c.1749+2T>C XP_016876412.1:n.1749+2T>C
XM_017020924.1:c.1230+2T>C XP_016876413.1:n.1230+2T>C
XM_017020925.2:c.1312+110252T>C XP_016876414.1:n.1312+110252T>C
XM_017020926.1:c.1158+2T>C XP_016876415.1:n.1158+2T>C
XR_001750990.1:n.86-15188A>G
XR_943947.1:n.123-15188A>G
XR_943949.1:n.123-15188A>G