Canonical Allele Identifier: CA3209251
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs750529067
ExAC: 5:14871483 A / G
gnomAD v2: 5-14871483-A-G
gnomAD v4: 5-14871374-A-G
MyVariant Identifiers: chr5:g.14871483A>G (hg19) chr5:g.14871374A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871374A>G , CM000667.2:g.14871374A>G GRCh38
NC_000005.9:g.14871483A>G , CM000667.1:g.14871483A>G GRCh37
NC_000005.8:g.14924483A>G NCBI36
NG_008273.1:g.5405T>C
NG_008273.2:g.5412T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.74T>C MANE Select ENSP00000284268.6:p.Ile25Thr
ENST00000284268.6:c.74T>C ENSP00000284268.6:p.Ile25Thr
ENST00000505140.1:c.74T>C ENSP00000426332.1:p.Ile25Thr
ENST00000513115.1:n.99T>C
NM_054027.4:c.74T>C NP_473368.1:p.Ile25Thr
XM_011514067.1:c.74T>C XP_011512369.1:p.Ile25Thr
NM_054027.5:c.74T>C NP_473368.1:p.Ile25Thr
NM_054027.6:c.74T>C MANE Select NP_473368.1:p.Ile25Thr
Search 100 bp 5'
Search 100 bp 3'