Canonical Allele Identifier: CA359245367
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716769C>G , CM000667.2:g.14716769C>G GRCh38
NC_000005.9:g.14716878C>G , CM000667.1:g.14716878C>G GRCh37
NC_000005.8:g.14769878C>G NCBI36
NG_008273.1:g.160010G>C
NG_008273.2:g.160017G>C
NG_051625.1:g.60976C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1078G>C MANE Select ENSP00000284268.6:p.Asp360His
ENST00000284268.6:c.1078G>C ENSP00000284268.6:p.Asp360His
ENST00000502585.1:n.320G>C
NM_054027.4:c.1078G>C NP_473368.1:p.Asp360His
NM_054027.5:c.1078G>C NP_473368.1:p.Asp360His
XM_017009644.2:c.994G>C XP_016865133.1:p.Asp332His
NM_054027.6:c.1078G>C MANE Select NP_473368.1:p.Asp360His