Canonical Allele Identifier: CA2765375248
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871335G>T , CM000667.2:g.14871335G>T GRCh38
NC_000005.9:g.14871444G>T , CM000667.1:g.14871444G>T GRCh37
NC_000005.8:g.14924444G>T NCBI36
NG_008273.1:g.5444C>A
NG_008273.2:g.5451C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.96+17C>A MANE Select ENSP00000284268.6:n.96+17C>A
ENST00000284268.6:c.96+17C>A ENSP00000284268.6:n.96+17C>A
ENST00000505140.1:c.113C>A ENSP00000426332.1:p.Ala38Glu
ENST00000513115.1:n.121+17C>A
NM_054027.4:c.96+17C>A NP_473368.1:n.96+17C>A
XM_011514067.1:c.96+17C>A XP_011512369.1:n.96+17C>A
NM_054027.5:c.96+17C>A NP_473368.1:n.96+17C>A
NM_054027.6:c.96+17C>A MANE Select NP_473368.1:n.96+17C>A