Canonical Allele Identifier: CA359245299
Gene: ANKH HGNC NCBI

Linked Data

COSMIC: COSM222981

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716739G>A , CM000667.2:g.14716739G>A GRCh38
NC_000005.9:g.14716848G>A , CM000667.1:g.14716848G>A GRCh37
NC_000005.8:g.14769848G>A NCBI36
NG_008273.1:g.160040C>T
NG_008273.2:g.160047C>T
NG_051625.1:g.60946G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1108C>T MANE Select ENSP00000284268.6:p.Pro370Ser
ENST00000284268.6:c.1108C>T ENSP00000284268.6:p.Pro370Ser
ENST00000502585.1:n.350C>T
NM_054027.4:c.1108C>T NP_473368.1:p.Pro370Ser
NM_054027.5:c.1108C>T NP_473368.1:p.Pro370Ser
XM_017009644.2:c.1024C>T XP_016865133.1:p.Pro342Ser
NM_054027.6:c.1108C>T MANE Select NP_473368.1:p.Pro370Ser