Canonical Allele Identifier: CA359286046
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871381T>C , CM000667.2:g.14871381T>C GRCh38
NC_000005.9:g.14871490T>C , CM000667.1:g.14871490T>C GRCh37
NC_000005.8:g.14924490T>C NCBI36
NG_008273.1:g.5398A>G
NG_008273.2:g.5405A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.67A>G MANE Select ENSP00000284268.6:p.Thr23Ala
ENST00000284268.6:c.67A>G ENSP00000284268.6:p.Thr23Ala
ENST00000505140.1:c.67A>G ENSP00000426332.1:p.Thr23Ala
ENST00000513115.1:n.92A>G
NM_054027.4:c.67A>G NP_473368.1:p.Thr23Ala
XM_011514067.1:c.67A>G XP_011512369.1:p.Thr23Ala
NM_054027.5:c.67A>G NP_473368.1:p.Thr23Ala
NM_054027.6:c.67A>G MANE Select NP_473368.1:p.Thr23Ala