Canonical Allele Identifier: CA1224504321

Gene: ENAH

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225516585C>T , CM000663.2:g.225516585C>T	GRCh38
NC_000001.10:g.225704287C>T , CM000663.1:g.225704287C>T	GRCh37
NC_000001.9:g.223770910C>T	NCBI36
NG_051578.1:g.148461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696609.1:c.1231+611G>A	ENSP00000512753.1:n.1231+611G>A
ENST00000366843.7:c.913+611G>A MANE Select	ENSP00000355808.2:n.913+611G>A
ENST00000366843.6:c.913+611G>A	ENSP00000355808.2:n.913+611G>A
ENST00000366844.7:c.913+611G>A	ENSP00000355809.2:n.913+611G>A
ENST00000635051.1:c.1609+611G>A	ENSP00000489607.1:n.1609+611G>A
NM_001008493.1:c.913+611G>A	NP_001008493.1:n.913+611G>A
NM_018212.4:c.913+611G>A	NP_060682.2:n.913+611G>A
XM_005273187.1:c.955+611G>A	XP_005273244.1:n.955+611G>A
XM_006711795.1:c.1012+611G>A	XP_006711858.1:n.1012+611G>A
XM_006711796.1:c.1012+611G>A	XP_006711859.1:n.1012+611G>A
XM_006711797.1:c.902-1685G>A	XP_006711860.1:n.902-1685G>A
XM_011544229.1:c.931+611G>A	XP_011542531.1:n.931+611G>A
XM_011544230.1:c.970+611G>A	XP_011542532.1:n.970+611G>A
XM_011544231.1:c.931+611G>A	XP_011542533.1:n.931+611G>A
XM_011544232.1:c.955+611G>A	XP_011542534.1:n.955+611G>A
XM_011544233.1:c.874+611G>A	XP_011542535.1:n.874+611G>A
XM_011544234.1:c.845-1685G>A	XP_011542536.1:n.845-1685G>A
XM_011544235.1:c.547+611G>A	XP_011542537.1:n.547+611G>A
NM_001008493.2:c.913+611G>A	NP_001008493.1:n.913+611G>A
NM_018212.5:c.913+611G>A	NP_060682.2:n.913+611G>A
XM_011544229.2:c.1756+611G>A	XP_011542531.2:n.1756+611G>A
XM_017001746.2:c.1768+611G>A	XP_016857235.1:n.1768+611G>A
XM_017001747.1:c.1768+611G>A	XP_016857236.1:n.1768+611G>A
XM_017001748.1:c.1699+611G>A	XP_016857237.1:n.1699+611G>A
XM_017001749.1:c.1756+611G>A	XP_016857238.1:n.1756+611G>A
XM_017001750.1:c.1658-1685G>A	XP_016857239.1:n.1658-1685G>A
XM_017001751.1:c.1699+611G>A	XP_016857240.1:n.1699+611G>A
XM_017001752.1:c.1589-1685G>A	XP_016857241.1:n.1589-1685G>A
XM_024448305.1:c.2452+611G>A	XP_024304073.1:n.2452+611G>A
XM_024448306.1:c.2440+611G>A	XP_024304074.1:n.2440+611G>A
XM_024448307.1:c.2452+611G>A	XP_024304075.1:n.2452+611G>A
XM_024448308.1:c.2383+611G>A	XP_024304076.1:n.2383+611G>A
XM_024448309.1:c.1708+611G>A	XP_024304077.1:n.1708+611G>A
XM_024448310.1:c.1708+611G>A	XP_024304078.1:n.1708+611G>A
XM_024448311.1:c.1666+611G>A	XP_024304079.1:n.1666+611G>A
XM_024448313.1:c.1639+611G>A	XP_024304081.1:n.1639+611G>A
XM_024448314.1:c.1627+611G>A	XP_024304082.1:n.1627+611G>A
XM_024448315.1:c.1597+611G>A	XP_024304083.1:n.1597+611G>A
XM_024448316.1:c.1558+611G>A	XP_024304084.1:n.1558+611G>A
XM_024448317.1:c.1558+611G>A	XP_024304085.1:n.1558+611G>A
XM_024448318.1:c.2440+611G>A	XP_024304086.1:n.2440+611G>A
XM_024448319.1:c.2383+611G>A	XP_024304087.1:n.2383+611G>A
NM_001008493.3:c.913+611G>A	NP_001008493.1:n.913+611G>A
NM_001377481.1:c.970+611G>A	NP_001364410.1:n.970+611G>A
NM_001377482.1:c.970+611G>A	NP_001364411.1:n.970+611G>A
NM_001377483.1:c.803-1685G>A	NP_001364412.1:n.803-1685G>A
NM_018212.6:c.913+611G>A MANE Select	NP_060682.2:n.913+611G>A