Canonical Allele Identifier: CA1528949071
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871427G= , CM000667.2:g.14871427G= GRCh38
NC_000005.9:g.14871536G= , CM000667.1:g.14871536G= GRCh37
NC_000005.8:g.14924536G= NCBI36
NG_008273.1:g.5352C=
NG_008273.2:g.5359C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.21C= MANE Select ENSP00000284268.6:p.Leu7=
ENST00000284268.6:c.21C= ENSP00000284268.6:p.Leu7=
ENST00000505140.1:c.21C= ENSP00000426332.1:p.Leu7=
ENST00000513115.1:n.46C=
NM_054027.4:c.21C= NP_473368.1:p.Leu7=
XM_011514067.1:c.21C= XP_011512369.1:p.Leu7=
NM_054027.5:c.21C= NP_473368.1:p.Leu7=
NM_054027.6:c.21C= MANE Select NP_473368.1:p.Leu7=