Canonical Allele Identifier: CA2578273303
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14741759-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741759A>T , CM000667.2:g.14741759A>T GRCh38
NC_000005.9:g.14741868A>T , CM000667.1:g.14741868A>T GRCh37
NC_000005.8:g.14794868A>T NCBI36
NG_008273.1:g.135020T>A
NG_008273.2:g.135027T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1011+68T>A MANE Select ENSP00000284268.6:n.1011+68T>A
ENST00000284268.6:c.1011+68T>A ENSP00000284268.6:n.1011+68T>A
ENST00000503939.5:n.523+68T>A
ENST00000515517.1:n.313T>A
NM_054027.4:c.1011+68T>A NP_473368.1:n.1011+68T>A
XM_011514067.1:c.1011+68T>A XP_011512369.1:n.1011+68T>A
NM_054027.5:c.1011+68T>A NP_473368.1:n.1011+68T>A
XM_017009644.2:c.927+68T>A XP_016865133.1:n.927+68T>A
NM_054027.6:c.1011+68T>A MANE Select NP_473368.1:n.1011+68T>A
Search 100 bp 5'
Search 100 bp 3'