Canonical Allele Identifier: CA390121893

Gene: GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67165228T>C , CM000676.2:g.67165228T>C	GRCh38
NC_000014.8:g.67631945T>C , CM000676.1:g.67631945T>C	GRCh37
NC_000014.7:g.66701698T>C	NCBI36
NG_008875.1:g.662821T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020806.5:c.1975+2T>C MANE Select	NP_065857.1:n.1975+2T>C
ENST00000478722.6:c.1975+2T>C MANE Select	ENSP00000417901.1:n.1975+2T>C
NM_001024218.1:c.1876+2T>C	NP_001019389.1:n.1876+2T>C
NM_001024218.2:c.1876+2T>C	NP_001019389.1:n.1876+2T>C
NM_001377514.1:c.2035+2T>C	NP_001364443.1:n.2035+2T>C
NM_001377515.1:c.2005+2T>C	NP_001364444.1:n.2005+2T>C
NM_001377516.1:c.1996+2T>C	NP_001364445.1:n.1996+2T>C
NM_001377517.1:c.1948+2T>C	NP_001364446.1:n.1948+2T>C
NM_001377518.1:c.1933+2T>C	NP_001364447.1:n.1933+2T>C
NM_001377519.1:c.1915+2T>C	NP_001364448.1:n.1915+2T>C
NM_020806.4:c.1975+2T>C	NP_065857.1:n.1975+2T>C
ENST00000315266.9:c.1876+2T>C	ENSP00000312771.5:n.1876+2T>C
ENST00000478722.5:c.1975+2T>C	ENSP00000417901.1:n.1975+2T>C
ENST00000543237.5:c.2014+2T>C	ENSP00000438404.1:n.2014+2T>C
ENST00000544752.6:n.2023+2T>C
ENST00000555503.1:c.451+2T>C	ENSP00000452009.1:n.451+2T>C
ENST00000555527.1:n.434+2T>C
ENST00000557678.1:n.590T>C
XM_005267254.2:c.1933+2T>C	XP_005267311.1:n.1933+2T>C
XM_005267254.4:c.1933+2T>C	XP_005267311.1:n.1933+2T>C
XM_011536340.1:c.2143+2T>C	XP_011534642.1:n.2143+2T>C
XM_011536340.3:c.2143+2T>C	XP_011534642.1:n.2143+2T>C
XM_011536342.1:c.2104+2T>C	XP_011534644.1:n.2104+2T>C
XM_011536342.3:c.2104+2T>C	XP_011534644.1:n.2104+2T>C
XM_011536343.1:c.2071+2T>C	XP_011534645.1:n.2071+2T>C
XM_011536343.3:c.2071+2T>C	XP_011534645.1:n.2071+2T>C
XM_011536344.1:c.2044+2T>C	XP_011534646.1:n.2044+2T>C
XM_011536344.3:c.2044+2T>C	XP_011534646.1:n.2044+2T>C
XM_011536345.1:c.2014+2T>C	XP_011534647.1:n.2014+2T>C
XM_011536345.3:c.2014+2T>C	XP_011534647.1:n.2014+2T>C
XM_011536346.1:c.2005+2T>C	XP_011534648.1:n.2005+2T>C
XM_011536346.3:c.2005+2T>C	XP_011534648.1:n.2005+2T>C
XM_011536347.1:c.1915+2T>C	XP_011534649.1:n.1915+2T>C
XM_011536347.2:c.1915+2T>C	XP_011534649.1:n.1915+2T>C
XM_011536348.1:c.1126+2T>C	XP_011534650.1:n.1126+2T>C
XM_017020913.2:c.2134+2T>C	XP_016876402.1:n.2134+2T>C
XM_017020914.2:c.2086+2T>C	XP_016876403.1:n.2086+2T>C
XM_017020915.2:c.2035+2T>C	XP_016876404.1:n.2035+2T>C
XM_017020916.2:c.1996+2T>C	XP_016876405.1:n.1996+2T>C
XM_017020917.2:c.1987+2T>C	XP_016876406.1:n.1987+2T>C
XM_017020918.2:c.1972+2T>C	XP_016876407.1:n.1972+2T>C
XM_017020919.2:c.1948+2T>C	XP_016876408.1:n.1948+2T>C
XM_017020920.2:c.1834+2T>C	XP_016876409.1:n.1834+2T>C
XM_017020921.1:c.1774+2T>C	XP_016876410.1:n.1774+2T>C
XM_017020922.1:c.1774+2T>C	XP_016876411.1:n.1774+2T>C
XM_017020923.1:c.1645+2T>C	XP_016876412.1:n.1645+2T>C
XM_017020924.1:c.1126+2T>C	XP_016876413.1:n.1126+2T>C
XM_017020925.2:c.1312+106442T>C	XP_016876414.1:n.1312+106442T>C
XM_017020926.1:c.1054+2T>C	XP_016876415.1:n.1054+2T>C
XR_001750990.1:n.86-11378A>G
XR_943947.1:n.123-11378A>G
XR_943949.1:n.123-11378A>G