Canonical Allele Identifier: CA359286160
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871438A>G , CM000667.2:g.14871438A>G GRCh38
NC_000005.9:g.14871547A>G , CM000667.1:g.14871547A>G GRCh37
NC_000005.8:g.14924547A>G NCBI36
NG_008273.1:g.5341T>C
NG_008273.2:g.5348T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.10T>C MANE Select ENSP00000284268.6:p.Phe4Leu
ENST00000284268.6:c.10T>C ENSP00000284268.6:p.Phe4Leu
ENST00000505140.1:c.10T>C ENSP00000426332.1:p.Phe4Leu
ENST00000513115.1:n.35T>C
NM_054027.4:c.10T>C NP_473368.1:p.Phe4Leu
XM_011514067.1:c.10T>C XP_011512369.1:p.Phe4Leu
NM_054027.5:c.10T>C NP_473368.1:p.Phe4Leu
NM_054027.6:c.10T>C MANE Select NP_473368.1:p.Phe4Leu