Canonical Allele Identifier: CA114720006
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs545914026
gnomAD v2: 5-14716763-A-T
gnomAD v3: 5-14716654-A-T
gnomAD v4: 5-14716654-A-T
MyVariant Identifiers: chr5:g.14716763A>T (hg19) chr5:g.14716654A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716654A>T , CM000667.2:g.14716654A>T GRCh38
NC_000005.9:g.14716763A>T , CM000667.1:g.14716763A>T GRCh37
NC_000005.8:g.14769763A>T NCBI36
NG_008273.1:g.160125T>A
NG_008273.2:g.160132T>A
NG_051625.1:g.60861A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+52T>A MANE Select ENSP00000284268.6:n.1141+52T>A
ENST00000284268.6:c.1141+52T>A ENSP00000284268.6:n.1141+52T>A
ENST00000502585.1:n.383+52T>A
NM_054027.4:c.1141+52T>A NP_473368.1:n.1141+52T>A
NM_054027.5:c.1141+52T>A NP_473368.1:n.1141+52T>A
XM_017009644.2:c.1057+52T>A XP_016865133.1:n.1057+52T>A
NM_054027.6:c.1141+52T>A MANE Select NP_473368.1:n.1141+52T>A
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