Canonical Allele Identifier: CA404747295

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17397289C>G (hg19) ; chr19:g.17286480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17286480C>G , CM000681.2:g.17286480C>G	GRCh38
NC_000019.9:g.17397289C>G , CM000681.1:g.17397289C>G	GRCh37
NC_000019.8:g.17258289C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.1776C>G MANE Select	ENSP00000384008.3:p.His592Gln
ENST00000404261.9:c.*362C>G	ENSP00000384753.6:n.*362C>G
ENST00000594072.6:c.1698C>G	ENSP00000468845.4:p.His566Gln
ENST00000651416.1:n.1915C>G
ENST00000652132.1:c.1665C>G	ENSP00000498416.1:p.His555Gln
ENST00000394458.7:c.1938C>G	ENSP00000377971.4:p.His646Gln
ENST00000404085.5:c.*1597C>G	ENSP00000384008.2:n.*1597C>G
ENST00000404261.8:c.*362C>G	ENSP00000384753.5:n.*362C>G
ENST00000594072.5:c.1860C>G	ENSP00000468845.3:p.His620Gln
ENST00000596626.1:n.1889C>G
ENST00000598347.2:c.1561C>G
NM_001278443.1:c.1827C>G	NP_001265372.1:p.His609Gln
NM_001278444.1:c.1721C>G	NP_001265373.1:p.Thr574Ser
NM_001278445.1:c.1764C>G	NP_001265374.1:p.His588Gln
NM_152363.5:c.1938C>G	NP_689576.5:p.His646Gln
NR_103530.1:n.1796C>G
NM_001278443.2:c.1665C>G	NP_001265372.2:p.His555Gln
NM_001278444.2:c.1559C>G	NP_001265373.2:p.Thr520Ser
NM_001278445.2:c.1656C>G	NP_001265374.2:p.His552Gln
NM_152363.6:c.1776C>G MANE Select	NP_689576.6:p.His592Gln
NR_103530.2:n.1540C>G