Canonical Allele Identifier: CA3209271
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 351926
dbSNP Id: rs78431233

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871451C>T , CM000667.2:g.14871451C>T GRCh38
NC_000005.9:g.14871560C>T , CM000667.1:g.14871560C>T GRCh37
NC_000005.8:g.14924560C>T NCBI36
NG_008273.1:g.5328G>A
NG_008273.2:g.5335G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.-4G>A MANE Select ENSP00000284268.6:p.=
ENST00000284268.6:c.-4G>A ENSP00000284268.6:p.=
ENST00000505140.1:c.-4G>A ENSP00000426332.1:p.=
ENST00000513115.1:n.22G>A
NM_054027.4:c.-4G>A NP_473368.1:p.=
XM_011514067.1:c.-4G>A XP_011512369.1:p.=
NM_054027.5:c.-4G>A NP_473368.1:p.=
NM_054027.6:c.-4G>A MANE Select NP_473368.1:p.=