Canonical Allele Identifier: CA359245279
Gene: ANKH HGNC NCBI

Linked Data

COSMIC: COSM449057

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716729A>T , CM000667.2:g.14716729A>T GRCh38
NC_000005.9:g.14716838A>T , CM000667.1:g.14716838A>T GRCh37
NC_000005.8:g.14769838A>T NCBI36
NG_008273.1:g.160050T>A
NG_008273.2:g.160057T>A
NG_051625.1:g.60936A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1118T>A MANE Select ENSP00000284268.6:p.Ile373Asn
ENST00000284268.6:c.1118T>A ENSP00000284268.6:p.Ile373Asn
ENST00000502585.1:n.360T>A
NM_054027.4:c.1118T>A NP_473368.1:p.Ile373Asn
NM_054027.5:c.1118T>A NP_473368.1:p.Ile373Asn
XM_017009644.2:c.1034T>A XP_016865133.1:p.Ile345Asn
NM_054027.6:c.1118T>A MANE Select NP_473368.1:p.Ile373Asn