Canonical Allele Identifier: CA1528880811
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716824C= , CM000667.2:g.14716824C= GRCh38
NC_000005.9:g.14716933C= , CM000667.1:g.14716933C= GRCh37
NC_000005.8:g.14769933C= NCBI36
NG_008273.1:g.159955G=
NG_008273.2:g.159962G=
NG_051625.1:g.61031C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1023G= MANE Select ENSP00000284268.6:p.Val341=
ENST00000284268.6:c.1023G= ENSP00000284268.6:p.Val341=
ENST00000502585.1:n.265G=
NM_054027.4:c.1023G= NP_473368.1:p.Val341=
NM_054027.5:c.1023G= NP_473368.1:p.Val341=
XM_017009644.2:c.939G= XP_016865133.1:p.Val313=
NM_054027.6:c.1023G= MANE Select NP_473368.1:p.Val341=