Canonical Allele Identifier: CA359245383
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716778T>A , CM000667.2:g.14716778T>A GRCh38
NC_000005.9:g.14716887T>A , CM000667.1:g.14716887T>A GRCh37
NC_000005.8:g.14769887T>A NCBI36
NG_008273.1:g.160001A>T
NG_008273.2:g.160008A>T
NG_051625.1:g.60985T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1069A>T MANE Select ENSP00000284268.6:p.Ile357Phe
ENST00000284268.6:c.1069A>T ENSP00000284268.6:p.Ile357Phe
ENST00000502585.1:n.311A>T
NM_054027.4:c.1069A>T NP_473368.1:p.Ile357Phe
NM_054027.5:c.1069A>T NP_473368.1:p.Ile357Phe
XM_017009644.2:c.985A>T XP_016865133.1:p.Ile329Phe
NM_054027.6:c.1069A>T MANE Select NP_473368.1:p.Ile357Phe