Canonical Allele Identifier: CA3206741106

Gene: GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67159416A= , CM000676.2:g.67159416A=	GRCh38
NC_000014.8:g.67626133A= , CM000676.1:g.67626133A=	GRCh37
NC_000014.7:g.66695886A=	NCBI36
NG_008875.1:g.657009A=

Transcript Alleles

HGVS	Amino-acid Change
NM_020806.5:c.1838A= MANE Select	NP_065857.1:p.Asp613=
ENST00000478722.6:c.1838A= MANE Select	ENSP00000417901.1:p.Asp613=
NM_001024218.1:c.1739A=	NP_001019389.1:p.Asp580=
NM_001024218.2:c.1739A=	NP_001019389.1:p.Asp580=
NM_001377514.1:c.1898A=	NP_001364443.1:p.Asp633=
NM_001377515.1:c.1868A=	NP_001364444.1:p.Asp623=
NM_001377516.1:c.1859A=	NP_001364445.1:p.Asp620=
NM_001377517.1:c.1811A=	NP_001364446.1:p.Asp604=
NM_001377518.1:c.1796A=	NP_001364447.1:p.Asp599=
NM_001377519.1:c.1778A=	NP_001364448.1:p.Asp593=
NM_020806.4:c.1838A=	NP_065857.1:p.Asp613=
ENST00000315266.9:c.1739A=	ENSP00000312771.5:p.Asp580=
ENST00000478722.5:c.1838A=	ENSP00000417901.1:p.Asp613=
ENST00000543237.5:c.1877A=	ENSP00000438404.1:p.Asp626=
ENST00000544752.6:n.1886A=
ENST00000555503.1:c.314A=	ENSP00000452009.1:p.Asp105=
ENST00000555527.1:n.370-5746A=
ENST00000557678.1:n.451A=
XM_005267254.2:c.1796A=	XP_005267311.1:p.Asp599=
XM_005267254.4:c.1796A=	XP_005267311.1:p.Asp599=
XM_011536340.1:c.2006A=	XP_011534642.1:p.Asp669=
XM_011536340.3:c.2006A=	XP_011534642.1:p.Asp669=
XM_011536342.1:c.1967A=	XP_011534644.1:p.Asp656=
XM_011536342.3:c.1967A=	XP_011534644.1:p.Asp656=
XM_011536343.1:c.1934A=	XP_011534645.1:p.Asp645=
XM_011536343.3:c.1934A=	XP_011534645.1:p.Asp645=
XM_011536344.1:c.1907A=	XP_011534646.1:p.Asp636=
XM_011536344.3:c.1907A=	XP_011534646.1:p.Asp636=
XM_011536345.1:c.1877A=	XP_011534647.1:p.Asp626=
XM_011536345.3:c.1877A=	XP_011534647.1:p.Asp626=
XM_011536346.1:c.1868A=	XP_011534648.1:p.Asp623=
XM_011536346.3:c.1868A=	XP_011534648.1:p.Asp623=
XM_011536347.1:c.1778A=	XP_011534649.1:p.Asp593=
XM_011536347.2:c.1778A=	XP_011534649.1:p.Asp593=
XM_011536348.1:c.989A=	XP_011534650.1:p.Asp330=
XM_017020913.2:c.1997A=	XP_016876402.1:p.Asp666=
XM_017020914.2:c.1949A=	XP_016876403.1:p.Asp650=
XM_017020915.2:c.1898A=	XP_016876404.1:p.Asp633=
XM_017020916.2:c.1859A=	XP_016876405.1:p.Asp620=
XM_017020917.2:c.1850A=	XP_016876406.1:p.Asp617=
XM_017020918.2:c.1835A=	XP_016876407.1:p.Asp612=
XM_017020919.2:c.1811A=	XP_016876408.1:p.Asp604=
XM_017020920.2:c.1697A=	XP_016876409.1:p.Asp566=
XM_017020921.1:c.1637A=	XP_016876410.1:p.Asp546=
XM_017020922.1:c.1637A=	XP_016876411.1:p.Asp546=
XM_017020923.1:c.1508A=	XP_016876412.1:p.Asp503=
XM_017020924.1:c.989A=	XP_016876413.1:p.Asp330=
XM_017020925.2:c.1312+100630A=	XP_016876414.1:n.1312+100630A=
XM_017020926.1:c.917A=	XP_016876415.1:p.Asp306=
XR_001750990.1:n.86-5566T=
XR_943947.1:n.123-5566T=
XR_943948.1:n.789+760T=
XR_943949.1:n.123-5566T=