Canonical Allele Identifier: CA2697553979

Gene: GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67122383T>A , CM000676.2:g.67122383T>A	GRCh38
NC_000014.8:g.67589100T>A , CM000676.1:g.67589100T>A	GRCh37
NC_000014.7:g.66658853T>A	NCBI36
NG_008875.1:g.619976T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020806.5:c.1748+6T>A MANE Select	NP_065857.1:n.1748+6T>A
ENST00000478722.6:c.1748+6T>A MANE Select	ENSP00000417901.1:n.1748+6T>A
NM_001024218.1:c.1649+6T>A	NP_001019389.1:n.1649+6T>A
NM_001024218.2:c.1649+6T>A	NP_001019389.1:n.1649+6T>A
NM_001377514.1:c.1808+6T>A	NP_001364443.1:n.1808+6T>A
NM_001377515.1:c.1778+6T>A	NP_001364444.1:n.1778+6T>A
NM_001377516.1:c.1769+6T>A	NP_001364445.1:n.1769+6T>A
NM_001377517.1:c.1721+6T>A	NP_001364446.1:n.1721+6T>A
NM_001377518.1:c.1706+6T>A	NP_001364447.1:n.1706+6T>A
NM_001377519.1:c.1688+6T>A	NP_001364448.1:n.1688+6T>A
NM_020806.4:c.1748+6T>A	NP_065857.1:n.1748+6T>A
ENST00000315266.9:c.1649+6T>A	ENSP00000312771.5:n.1649+6T>A
ENST00000478722.5:c.1748+6T>A	ENSP00000417901.1:n.1748+6T>A
ENST00000543237.5:c.1787+6T>A	ENSP00000438404.1:n.1787+6T>A
ENST00000544752.6:n.1796+6T>A
ENST00000555503.1:c.224+6T>A	ENSP00000452009.1:n.224+6T>A
ENST00000555527.1:n.281+6T>A
XM_005267254.2:c.1706+6T>A	XP_005267311.1:n.1706+6T>A
XM_005267254.4:c.1706+6T>A	XP_005267311.1:n.1706+6T>A
XM_011536340.1:c.1916+6T>A	XP_011534642.1:n.1916+6T>A
XM_011536340.3:c.1916+6T>A	XP_011534642.1:n.1916+6T>A
XM_011536342.1:c.1877+6T>A	XP_011534644.1:n.1877+6T>A
XM_011536342.3:c.1877+6T>A	XP_011534644.1:n.1877+6T>A
XM_011536343.1:c.1844+6T>A	XP_011534645.1:n.1844+6T>A
XM_011536343.3:c.1844+6T>A	XP_011534645.1:n.1844+6T>A
XM_011536344.1:c.1817+6T>A	XP_011534646.1:n.1817+6T>A
XM_011536344.3:c.1817+6T>A	XP_011534646.1:n.1817+6T>A
XM_011536345.1:c.1787+6T>A	XP_011534647.1:n.1787+6T>A
XM_011536345.3:c.1787+6T>A	XP_011534647.1:n.1787+6T>A
XM_011536346.1:c.1778+6T>A	XP_011534648.1:n.1778+6T>A
XM_011536346.3:c.1778+6T>A	XP_011534648.1:n.1778+6T>A
XM_011536347.1:c.1688+6T>A	XP_011534649.1:n.1688+6T>A
XM_011536347.2:c.1688+6T>A	XP_011534649.1:n.1688+6T>A
XM_011536348.1:c.899+6T>A	XP_011534650.1:n.899+6T>A
XM_017020913.2:c.1907+6T>A	XP_016876402.1:n.1907+6T>A
XM_017020914.2:c.1859+6T>A	XP_016876403.1:n.1859+6T>A
XM_017020915.2:c.1808+6T>A	XP_016876404.1:n.1808+6T>A
XM_017020916.2:c.1769+6T>A	XP_016876405.1:n.1769+6T>A
XM_017020917.2:c.1760+6T>A	XP_016876406.1:n.1760+6T>A
XM_017020918.2:c.1745+6T>A	XP_016876407.1:n.1745+6T>A
XM_017020919.2:c.1721+6T>A	XP_016876408.1:n.1721+6T>A
XM_017020920.2:c.1607+6T>A	XP_016876409.1:n.1607+6T>A
XM_017020921.1:c.1547+6T>A	XP_016876410.1:n.1547+6T>A
XM_017020922.1:c.1547+6T>A	XP_016876411.1:n.1547+6T>A
XM_017020923.1:c.1418+6T>A	XP_016876412.1:n.1418+6T>A
XM_017020924.1:c.899+6T>A	XP_016876413.1:n.899+6T>A
XM_017020925.2:c.1312+63597T>A	XP_016876414.1:n.1312+63597T>A
XM_017020926.1:c.827+6T>A	XP_016876415.1:n.827+6T>A
XR_001750989.2:n.3101-13921A>T
XR_001750990.1:n.177-13921A>T
XR_943947.1:n.214-13921A>T
XR_943948.1:n.884-13921A>T