Canonical Allele Identifier: CA1528948981
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871248G= , CM000667.2:g.14871248G= GRCh38
NC_000005.9:g.14871357G= , CM000667.1:g.14871357G= GRCh37
NC_000005.8:g.14924357G= NCBI36
NG_008273.1:g.5531C=
NG_008273.2:g.5538C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.96+104C= MANE Select ENSP00000284268.6:n.96+104C=
ENST00000284268.6:c.96+104C= ENSP00000284268.6:n.96+104C=
ENST00000505140.1:c.200C= ENSP00000426332.1:p.Pro67=
ENST00000513115.1:n.121+104C=
NM_054027.4:c.96+104C= NP_473368.1:n.96+104C=
XM_011514067.1:c.96+104C= XP_011512369.1:n.96+104C=
NM_054027.5:c.96+104C= NP_473368.1:n.96+104C=
NM_054027.6:c.96+104C= MANE Select NP_473368.1:n.96+104C=