Canonical Allele Identifier: CA359286055
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871386C>G , CM000667.2:g.14871386C>G GRCh38
NC_000005.9:g.14871495C>G , CM000667.1:g.14871495C>G GRCh37
NC_000005.8:g.14924495C>G NCBI36
NG_008273.1:g.5393G>C
NG_008273.2:g.5400G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.62G>C MANE Select ENSP00000284268.6:p.Gly21Ala
ENST00000284268.6:c.62G>C ENSP00000284268.6:p.Gly21Ala
ENST00000505140.1:c.62G>C ENSP00000426332.1:p.Gly21Ala
ENST00000513115.1:n.87G>C
NM_054027.4:c.62G>C NP_473368.1:p.Gly21Ala
XM_011514067.1:c.62G>C XP_011512369.1:p.Gly21Ala
NM_054027.5:c.62G>C NP_473368.1:p.Gly21Ala
NM_054027.6:c.62G>C MANE Select NP_473368.1:p.Gly21Ala