Canonical Allele Identifier: CA359286145
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871429-G-C
MyVariant Identifiers: chr5:g.14871538G>C (hg19) chr5:g.14871429G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871429G>C , CM000667.2:g.14871429G>C GRCh38
NC_000005.9:g.14871538G>C , CM000667.1:g.14871538G>C GRCh37
NC_000005.8:g.14924538G>C NCBI36
NG_008273.1:g.5350C>G
NG_008273.2:g.5357C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.19C>G MANE Select ENSP00000284268.6:p.Leu7Val
ENST00000284268.6:c.19C>G ENSP00000284268.6:p.Leu7Val
ENST00000505140.1:c.19C>G ENSP00000426332.1:p.Leu7Val
ENST00000513115.1:n.44C>G
NM_054027.4:c.19C>G NP_473368.1:p.Leu7Val
XM_011514067.1:c.19C>G XP_011512369.1:p.Leu7Val
NM_054027.5:c.19C>G NP_473368.1:p.Leu7Val
NM_054027.6:c.19C>G MANE Select NP_473368.1:p.Leu7Val
Search 100 bp 5'
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