Canonical Allele Identifier: CA2673314960
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871682-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871682A>C , CM000667.2:g.14871682A>C GRCh38
NC_000005.9:g.14871791A>C , CM000667.1:g.14871791A>C GRCh37
NC_000005.8:g.14924791A>C NCBI36
NG_008273.1:g.5097T>G
NG_008273.2:g.5104T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-235T>G MANE Select ENSP00000284268.6:n.-235T>G
ENST00000284268.6:c.-235T>G ENSP00000284268.6:n.-235T>G
ENST00000505140.1:c.-235T>G ENSP00000426332.1:n.-235T>G
NM_054027.4:c.-235T>G NP_473368.1:n.-235T>G
XM_011514067.1:c.-235T>G XP_011512369.1:n.-235T>G
NM_054027.5:c.-235T>G NP_473368.1:n.-235T>G
NM_054027.6:c.-235T>G MANE Select NP_473368.1:n.-235T>G
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