Canonical Allele Identifier: CA1528880804
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716799C= , CM000667.2:g.14716799C= GRCh38
NC_000005.9:g.14716908C= , CM000667.1:g.14716908C= GRCh37
NC_000005.8:g.14769908C= NCBI36
NG_008273.1:g.159980G=
NG_008273.2:g.159987G=
NG_051625.1:g.61006C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1048G= MANE Select ENSP00000284268.6:p.Glu350=
ENST00000284268.6:c.1048G= ENSP00000284268.6:p.Glu350=
ENST00000502585.1:n.290G=
NM_054027.4:c.1048G= NP_473368.1:p.Glu350=
NM_054027.5:c.1048G= NP_473368.1:p.Glu350=
XM_017009644.2:c.964G= XP_016865133.1:p.Glu322=
NM_054027.6:c.1048G= MANE Select NP_473368.1:p.Glu350=