Canonical Allele Identifier: CA38523187

Gene: ENAH

Linked Data

• dbSNP Id: rs909945671
• MyVariant Identifiers: chr1:g.225676499T>A (hg19) ; chr1:g.225488797T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225488797T>A , CM000663.2:g.225488797T>A	GRCh38
NC_000001.10:g.225676499T>A , CM000663.1:g.225676499T>A	GRCh37
NC_000001.9:g.223743122T>A	NCBI36
NG_051578.1:g.176249A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696609.1:c.*8978A>T	ENSP00000512753.1:n.*8978A>T
ENST00000366843.7:c.*8978A>T MANE Select	ENSP00000355808.2:n.*8978A>T
ENST00000366844.7:c.*8978A>T	ENSP00000355809.2:n.*8978A>T
NM_001008493.1:c.*8978A>T	NP_001008493.1:n.*8978A>T
NM_018212.4:c.*8978A>T	NP_060682.2:n.*8978A>T
NM_001008493.2:c.*8978A>T	NP_001008493.1:n.*8978A>T
NM_018212.5:c.*8978A>T	NP_060682.2:n.*8978A>T
XM_017001751.1:c.*8978A>T	XP_016857240.1:n.*8978A>T
XM_024448309.1:c.*8978A>T	XP_024304077.1:n.*8978A>T
XM_024448310.1:c.*8978A>T	XP_024304078.1:n.*8978A>T
XM_024448311.1:c.*8978A>T	XP_024304079.1:n.*8978A>T
XM_024448313.1:c.*8978A>T	XP_024304081.1:n.*8978A>T
XM_024448314.1:c.*8978A>T	XP_024304082.1:n.*8978A>T
XM_024448315.1:c.*8978A>T	XP_024304083.1:n.*8978A>T
XM_024448316.1:c.*8978A>T	XP_024304084.1:n.*8978A>T
XM_024448317.1:c.*8978A>T	XP_024304085.1:n.*8978A>T
NM_001008493.3:c.*8978A>T	NP_001008493.1:n.*8978A>T
NM_001377481.1:c.*8978A>T	NP_001364410.1:n.*8978A>T
NM_001377482.1:c.*8978A>T	NP_001364411.1:n.*8978A>T
NM_001377483.1:c.*8978A>T	NP_001364412.1:n.*8978A>T
NM_018212.6:c.*8978A>T MANE Select	NP_060682.2:n.*8978A>T