Canonical Allele Identifier: CA2673314982
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871695-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871695G>T , CM000667.2:g.14871695G>T GRCh38
NC_000005.9:g.14871804G>T , CM000667.1:g.14871804G>T GRCh37
NC_000005.8:g.14924804G>T NCBI36
NG_008273.1:g.5084C>A
NG_008273.2:g.5091C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-248C>A MANE Select ENSP00000284268.6:n.-248C>A
ENST00000284268.6:c.-248C>A ENSP00000284268.6:n.-248C>A
ENST00000505140.1:c.-248C>A ENSP00000426332.1:n.-248C>A
NM_054027.4:c.-248C>A NP_473368.1:n.-248C>A
XM_011514067.1:c.-248C>A XP_011512369.1:n.-248C>A
NM_054027.5:c.-248C>A NP_473368.1:n.-248C>A
NM_054027.6:c.-248C>A MANE Select NP_473368.1:n.-248C>A
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