Canonical Allele Identifier: CA359286033
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871375-T-C
MyVariant Identifiers: chr5:g.14871484T>C (hg19) chr5:g.14871375T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871375T>C , CM000667.2:g.14871375T>C GRCh38
NC_000005.9:g.14871484T>C , CM000667.1:g.14871484T>C GRCh37
NC_000005.8:g.14924484T>C NCBI36
NG_008273.1:g.5404A>G
NG_008273.2:g.5411A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.73A>G MANE Select ENSP00000284268.6:p.Ile25Val
ENST00000284268.6:c.73A>G ENSP00000284268.6:p.Ile25Val
ENST00000505140.1:c.73A>G ENSP00000426332.1:p.Ile25Val
ENST00000513115.1:n.98A>G
NM_054027.4:c.73A>G NP_473368.1:p.Ile25Val
XM_011514067.1:c.73A>G XP_011512369.1:p.Ile25Val
NM_054027.5:c.73A>G NP_473368.1:p.Ile25Val
NM_054027.6:c.73A>G MANE Select NP_473368.1:p.Ile25Val
Search 100 bp 5'
Search 100 bp 3'