Canonical Allele Identifier: CA359286044
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14871489G>T (hg19) chr5:g.14871380G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871380G>T , CM000667.2:g.14871380G>T GRCh38
NC_000005.9:g.14871489G>T , CM000667.1:g.14871489G>T GRCh37
NC_000005.8:g.14924489G>T NCBI36
NG_008273.1:g.5399C>A
NG_008273.2:g.5406C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.68C>A MANE Select ENSP00000284268.6:p.Thr23Asn
ENST00000284268.6:c.68C>A ENSP00000284268.6:p.Thr23Asn
ENST00000505140.1:c.68C>A ENSP00000426332.1:p.Thr23Asn
ENST00000513115.1:n.93C>A
NM_054027.4:c.68C>A NP_473368.1:p.Thr23Asn
XM_011514067.1:c.68C>A XP_011512369.1:p.Thr23Asn
NM_054027.5:c.68C>A NP_473368.1:p.Thr23Asn
NM_054027.6:c.68C>A MANE Select NP_473368.1:p.Thr23Asn
Search 100 bp 5'
Search 100 bp 3'