Canonical Allele Identifier: CA1528903996
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14769149C= , CM000667.2:g.14769149C= GRCh38
NC_000005.9:g.14769258C= , CM000667.1:g.14769258C= GRCh37
NC_000005.8:g.14822258C= NCBI36
NG_008273.1:g.107630G=
NG_008273.2:g.107637G=

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.139G= MANE Select ENSP00000284268.6:p.Glu47=
ENST00000646501.1:c.2G=
ENST00000284268.6:c.139G= ENSP00000284268.6:p.Glu47=
ENST00000503389.1:n.145G=
ENST00000513115.1:n.164G=
NM_054027.4:c.139G= NP_473368.1:p.Glu47=
XM_011514067.1:c.139G= XP_011512369.1:p.Glu47=
NM_054027.5:c.139G= NP_473368.1:p.Glu47=
XM_017009644.2:c.55G= XP_016865133.1:p.Glu19=
NM_054027.6:c.139G= MANE Select NP_473368.1:p.Glu47=