Canonical Allele Identifier: CA1528949039
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871347C= , CM000667.2:g.14871347C= GRCh38
NC_000005.9:g.14871456C= , CM000667.1:g.14871456C= GRCh37
NC_000005.8:g.14924456C= NCBI36
NG_008273.1:g.5432G=
NG_008273.2:g.5439G=

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.96+5G= MANE Select ENSP00000284268.6:n.96+5G=
ENST00000284268.6:c.96+5G= ENSP00000284268.6:n.96+5G=
ENST00000505140.1:c.101G= ENSP00000426332.1:p.Ser34=
ENST00000513115.1:n.121+5G=
NM_054027.4:c.96+5G= NP_473368.1:n.96+5G=
XM_011514067.1:c.96+5G= XP_011512369.1:n.96+5G=
NM_054027.5:c.96+5G= NP_473368.1:n.96+5G=
NM_054027.6:c.96+5G= MANE Select NP_473368.1:n.96+5G=