Canonical Allele Identifier: CA1528949038
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871346G= , CM000667.2:g.14871346G= GRCh38
NC_000005.9:g.14871455G= , CM000667.1:g.14871455G= GRCh37
NC_000005.8:g.14924455G= NCBI36
NG_008273.1:g.5433C=
NG_008273.2:g.5440C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.96+6C= MANE Select ENSP00000284268.6:n.96+6C=
ENST00000284268.6:c.96+6C= ENSP00000284268.6:n.96+6C=
ENST00000505140.1:c.102C= ENSP00000426332.1:p.Ser34=
ENST00000513115.1:n.121+6C=
NM_054027.4:c.96+6C= NP_473368.1:n.96+6C=
XM_011514067.1:c.96+6C= XP_011512369.1:n.96+6C=
NM_054027.5:c.96+6C= NP_473368.1:n.96+6C=
NM_054027.6:c.96+6C= MANE Select NP_473368.1:n.96+6C=