Canonical Allele Identifier: CA443372182
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14871488G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871379G>A , CM000667.2:g.14871379G>A GRCh38
NC_000005.9:g.14871488G>A , CM000667.1:g.14871488G>A GRCh37
NC_000005.8:g.14924488G>A NCBI36
NG_008273.1:g.5400C>T
NG_008273.2:g.5407C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.69C>T MANE Select ENSP00000284268.6:p.Thr23=
ENST00000284268.6:c.69C>T ENSP00000284268.6:p.Thr23=
ENST00000505140.1:c.69C>T ENSP00000426332.1:p.Thr23=
ENST00000513115.1:n.94C>T
NM_054027.4:c.69C>T NP_473368.1:p.Thr23=
XM_011514067.1:c.69C>T XP_011512369.1:p.Thr23=
NM_054027.5:c.69C>T NP_473368.1:p.Thr23=
NM_054027.6:c.69C>T MANE Select NP_473368.1:p.Thr23=