Canonical Allele Identifier: CA1528949035
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871340G= , CM000667.2:g.14871340G= GRCh38
NC_000005.9:g.14871449G= , CM000667.1:g.14871449G= GRCh37
NC_000005.8:g.14924449G= NCBI36
NG_008273.1:g.5439C=
NG_008273.2:g.5446C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.96+12C= MANE Select ENSP00000284268.6:n.96+12C=
ENST00000284268.6:c.96+12C= ENSP00000284268.6:n.96+12C=
ENST00000505140.1:c.108C= ENSP00000426332.1:p.Gly36=
ENST00000513115.1:n.121+12C=
NM_054027.4:c.96+12C= NP_473368.1:n.96+12C=
XM_011514067.1:c.96+12C= XP_011512369.1:n.96+12C=
NM_054027.5:c.96+12C= NP_473368.1:n.96+12C=
NM_054027.6:c.96+12C= MANE Select NP_473368.1:n.96+12C=