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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA253428
Gene: ANKH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5200
ClinVar RCV Id:
RCV000005510
dbSNP Id:
rs267606656
MyVariant Identifiers:
chr5:g.14716941A>G (hg19)
chr5:g.14716832A>G (hg38)
PubMed:
PMID:20358596
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.14716832A>G , CM000667.2:g.14716832A>G
GRCh38
NC_000005.9:g.14716941A>G , CM000667.1:g.14716941A>G
GRCh37
NC_000005.8:g.14769941A>G
NCBI36
NG_008273.1:g.159947T>C
NG_008273.2:g.159954T>C
NG_051625.1:g.61039A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000284268.8:c.1015T>C
MANE Select
ENSP00000284268.6:p.Cys339Arg
ENST00000284268.6:c.1015T>C
ENSP00000284268.6:p.Cys339Arg
ENST00000502585.1:n.257T>C
NM_054027.4:c.1015T>C
NP_473368.1:p.Cys339Arg
NM_054027.5:c.1015T>C
NP_473368.1:p.Cys339Arg
XM_017009644.2:c.931T>C
XP_016865133.1:p.Cys311Arg
NM_054027.6:c.1015T>C
MANE Select
NP_473368.1:p.Cys339Arg
Search 100 bp 5'
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