Canonical Allele Identifier: CA3209249
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 1675980
ClinVar RCV Id: RCV002214349
dbSNP Id: rs762063944
ExAC: 5:14871467 C / T
gnomAD v2: 5-14871467-C-T
gnomAD v4: 5-14871358-C-T
MyVariant Identifiers: chr5:g.14871467C>T (hg19) chr5:g.14871358C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871358C>T , CM000667.2:g.14871358C>T GRCh38
NC_000005.9:g.14871467C>T , CM000667.1:g.14871467C>T GRCh37
NC_000005.8:g.14924467C>T NCBI36
NG_008273.1:g.5421G>A
NG_008273.2:g.5428G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.90G>A MANE Select ENSP00000284268.6:p.Gly30=
ENST00000284268.6:c.90G>A ENSP00000284268.6:p.Gly30=
ENST00000505140.1:c.90G>A ENSP00000426332.1:p.Gly30=
ENST00000513115.1:n.115G>A
NM_054027.4:c.90G>A NP_473368.1:p.Gly30=
XM_011514067.1:c.90G>A XP_011512369.1:p.Gly30=
NM_054027.5:c.90G>A NP_473368.1:p.Gly30=
NM_054027.6:c.90G>A MANE Select NP_473368.1:p.Gly30=
Search 100 bp 5'
Search 100 bp 3'