Canonical Allele Identifier: CA359286158
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871437A>T , CM000667.2:g.14871437A>T GRCh38
NC_000005.9:g.14871546A>T , CM000667.1:g.14871546A>T GRCh37
NC_000005.8:g.14924546A>T NCBI36
NG_008273.1:g.5342T>A
NG_008273.2:g.5349T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.11T>A MANE Select ENSP00000284268.6:p.Phe4Tyr
ENST00000284268.6:c.11T>A ENSP00000284268.6:p.Phe4Tyr
ENST00000505140.1:c.11T>A ENSP00000426332.1:p.Phe4Tyr
ENST00000513115.1:n.36T>A
NM_054027.4:c.11T>A NP_473368.1:p.Phe4Tyr
XM_011514067.1:c.11T>A XP_011512369.1:p.Phe4Tyr
NM_054027.5:c.11T>A NP_473368.1:p.Phe4Tyr
NM_054027.6:c.11T>A MANE Select NP_473368.1:p.Phe4Tyr