Canonical Allele Identifier: CA359245451
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716808T>A , CM000667.2:g.14716808T>A GRCh38
NC_000005.9:g.14716917T>A , CM000667.1:g.14716917T>A GRCh37
NC_000005.8:g.14769917T>A NCBI36
NG_008273.1:g.159971A>T
NG_008273.2:g.159978A>T
NG_051625.1:g.61015T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1039A>T MANE Select ENSP00000284268.6:p.Asn347Tyr
ENST00000284268.6:c.1039A>T ENSP00000284268.6:p.Asn347Tyr
ENST00000502585.1:n.281A>T
NM_054027.4:c.1039A>T NP_473368.1:p.Asn347Tyr
NM_054027.5:c.1039A>T NP_473368.1:p.Asn347Tyr
XM_017009644.2:c.955A>T XP_016865133.1:p.Asn319Tyr
NM_054027.6:c.1039A>T MANE Select NP_473368.1:p.Asn347Tyr