Canonical Allele Identifier: CA1224507461
Gene: ENAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225523485G>C , CM000663.2:g.225523485G>C GRCh38
NC_000001.10:g.225711187G>C , CM000663.1:g.225711187G>C GRCh37
NC_000001.9:g.223777810G>C NCBI36
NG_051578.1:g.141561C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696609.1:c.68+1114C>G ENSP00000512753.1:n.68+1114C>G
ENST00000366843.7:c.435-3920C>G MANE Select ENSP00000355808.2:n.435-3920C>G
ENST00000284563.7:c.492-3920C>G ENSP00000284563.7:n.492-3920C>G
ENST00000366843.6:c.435-3920C>G ENSP00000355808.2:n.435-3920C>G
ENST00000366844.7:c.435-3920C>G ENSP00000355809.2:n.435-3920C>G
ENST00000391874.2:n.521-3920C>G
ENST00000497899.6:c.286-3920C>G
ENST00000635051.1:c.447-3920C>G ENSP00000489607.1:n.447-3920C>G
NM_001008493.1:c.435-3920C>G NP_001008493.1:n.435-3920C>G
NM_018212.4:c.435-3920C>G NP_060682.2:n.435-3920C>G
XM_005273187.1:c.477-3920C>G XP_005273244.1:n.477-3920C>G
XM_006711795.1:c.534-3920C>G XP_006711858.1:n.534-3920C>G
XM_006711796.1:c.534-3920C>G XP_006711859.1:n.534-3920C>G
XM_006711797.1:c.534-3920C>G XP_006711860.1:n.534-3920C>G
XM_011544229.1:c.453-3920C>G XP_011542531.1:n.453-3920C>G
XM_011544230.1:c.492-3920C>G XP_011542532.1:n.492-3920C>G
XM_011544231.1:c.453-3920C>G XP_011542533.1:n.453-3920C>G
XM_011544232.1:c.477-3920C>G XP_011542534.1:n.477-3920C>G
XM_011544233.1:c.396-3920C>G XP_011542535.1:n.396-3920C>G
XM_011544234.1:c.477-3920C>G XP_011542536.1:n.477-3920C>G
XM_011544235.1:c.68+1114C>G XP_011542537.1:n.68+1114C>G
NM_001008493.2:c.435-3920C>G NP_001008493.1:n.435-3920C>G
NM_018212.5:c.435-3920C>G NP_060682.2:n.435-3920C>G
XM_011544229.2:c.1278-3920C>G XP_011542531.2:n.1278-3920C>G
XM_017001746.2:c.1290-3920C>G XP_016857235.1:n.1290-3920C>G
XM_017001747.1:c.1290-3920C>G XP_016857236.1:n.1290-3920C>G
XM_017001748.1:c.1221-3920C>G XP_016857237.1:n.1221-3920C>G
XM_017001749.1:c.1278-3920C>G XP_016857238.1:n.1278-3920C>G
XM_017001750.1:c.1290-3920C>G XP_016857239.1:n.1290-3920C>G
XM_017001751.1:c.1221-3920C>G XP_016857240.1:n.1221-3920C>G
XM_017001752.1:c.1221-3920C>G XP_016857241.1:n.1221-3920C>G
XM_024448305.1:c.1290-3920C>G XP_024304073.1:n.1290-3920C>G
XM_024448306.1:c.1278-3920C>G XP_024304074.1:n.1278-3920C>G
XM_024448307.1:c.1290-3920C>G XP_024304075.1:n.1290-3920C>G
XM_024448308.1:c.1221-3920C>G XP_024304076.1:n.1221-3920C>G
XM_024448309.1:c.546-3920C>G XP_024304077.1:n.546-3920C>G
XM_024448310.1:c.546-3920C>G XP_024304078.1:n.546-3920C>G
XM_024448311.1:c.504-3920C>G XP_024304079.1:n.504-3920C>G
XM_024448313.1:c.477-3920C>G XP_024304081.1:n.477-3920C>G
XM_024448314.1:c.465-3920C>G XP_024304082.1:n.465-3920C>G
XM_024448315.1:c.435-3920C>G XP_024304083.1:n.435-3920C>G
XM_024448316.1:c.396-3920C>G XP_024304084.1:n.396-3920C>G
XM_024448317.1:c.396-3920C>G XP_024304085.1:n.396-3920C>G
XM_024448318.1:c.1278-3920C>G XP_024304086.1:n.1278-3920C>G
XM_024448319.1:c.1221-3920C>G XP_024304087.1:n.1221-3920C>G
NM_001008493.3:c.435-3920C>G NP_001008493.1:n.435-3920C>G
NM_001377481.1:c.492-3920C>G NP_001364410.1:n.492-3920C>G
NM_001377482.1:c.492-3920C>G NP_001364411.1:n.492-3920C>G
NM_001377483.1:c.435-3920C>G NP_001364412.1:n.435-3920C>G
NM_018212.6:c.435-3920C>G MANE Select NP_060682.2:n.435-3920C>G