Canonical Allele Identifier: CA1073463807
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1738362848
gnomAD v3: 5-14741745-A-T
gnomAD v4: 5-14741745-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741745A>T , CM000667.2:g.14741745A>T GRCh38
NC_000005.9:g.14741854A>T , CM000667.1:g.14741854A>T GRCh37
NC_000005.8:g.14794854A>T NCBI36
NG_008273.1:g.135034T>A
NG_008273.2:g.135041T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1011+82T>A MANE Select ENSP00000284268.6:n.1011+82T>A
ENST00000284268.6:c.1011+82T>A ENSP00000284268.6:n.1011+82T>A
ENST00000503939.5:n.523+82T>A
ENST00000515517.1:n.327T>A
NM_054027.4:c.1011+82T>A NP_473368.1:n.1011+82T>A
XM_011514067.1:c.1011+82T>A XP_011512369.1:n.1011+82T>A
NM_054027.5:c.1011+82T>A NP_473368.1:n.1011+82T>A
XM_017009644.2:c.927+82T>A XP_016865133.1:n.927+82T>A
NM_054027.6:c.1011+82T>A MANE Select NP_473368.1:n.1011+82T>A
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