Canonical Allele Identifier: CA359286079
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871398A>G , CM000667.2:g.14871398A>G GRCh38
NC_000005.9:g.14871507A>G , CM000667.1:g.14871507A>G GRCh37
NC_000005.8:g.14924507A>G NCBI36
NG_008273.1:g.5381T>C
NG_008273.2:g.5388T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.50T>C MANE Select ENSP00000284268.6:p.Leu17Ser
ENST00000284268.6:c.50T>C ENSP00000284268.6:p.Leu17Ser
ENST00000505140.1:c.50T>C ENSP00000426332.1:p.Leu17Ser
ENST00000513115.1:n.75T>C
NM_054027.4:c.50T>C NP_473368.1:p.Leu17Ser
XM_011514067.1:c.50T>C XP_011512369.1:p.Leu17Ser
NM_054027.5:c.50T>C NP_473368.1:p.Leu17Ser
NM_054027.6:c.50T>C MANE Select NP_473368.1:p.Leu17Ser