Canonical Allele Identifier: CA3209170
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 351557
ClinVar RCV Id: RCV000305038 RCV000343491
dbSNP Id: rs769050375
ExAC: 5:14769072 C / T
gnomAD v2: 5-14769072-C-T
gnomAD v3: 5-14768963-C-T
gnomAD v4: 5-14768963-C-T
MyVariant Identifiers: chr5:g.14769072C>T (hg19) chr5:g.14768963C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14768963C>T , CM000667.2:g.14768963C>T GRCh38
NC_000005.9:g.14769072C>T , CM000667.1:g.14769072C>T GRCh37
NC_000005.8:g.14822072C>T NCBI36
NG_008273.1:g.107816G>A
NG_008273.2:g.107823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.313+12G>A MANE Select ENSP00000284268.6:n.313+12G>A
ENST00000646501.1:c.176+12G>A
ENST00000284268.6:c.313+12G>A ENSP00000284268.6:n.313+12G>A
ENST00000513115.1:n.350G>A
NM_054027.4:c.313+12G>A NP_473368.1:n.313+12G>A
XM_011514067.1:c.313+12G>A XP_011512369.1:n.313+12G>A
NM_054027.5:c.313+12G>A NP_473368.1:n.313+12G>A
XM_017009644.2:c.229+12G>A XP_016865133.1:n.229+12G>A
NM_054027.6:c.313+12G>A MANE Select NP_473368.1:n.313+12G>A
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