Canonical Allele Identifier: CA1528880805
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716803C= , CM000667.2:g.14716803C= GRCh38
NC_000005.9:g.14716912C= , CM000667.1:g.14716912C= GRCh37
NC_000005.8:g.14769912C= NCBI36
NG_008273.1:g.159976G=
NG_008273.2:g.159983G=
NG_051625.1:g.61010C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1044G= MANE Select ENSP00000284268.6:p.Val348=
ENST00000284268.6:c.1044G= ENSP00000284268.6:p.Val348=
ENST00000502585.1:n.286G=
NM_054027.4:c.1044G= NP_473368.1:p.Val348=
NM_054027.5:c.1044G= NP_473368.1:p.Val348=
XM_017009644.2:c.960G= XP_016865133.1:p.Val320=
NM_054027.6:c.1044G= MANE Select NP_473368.1:p.Val348=