Canonical Allele Identifier: CA557887559
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1215823597
gnomAD v2: 5-14717025-T-G
gnomAD v3: 5-14716916-T-G
gnomAD v4: 5-14716916-T-G
MyVariant Identifiers: chr5:g.14717025T>G (hg19) chr5:g.14716916T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716916T>G , CM000667.2:g.14716916T>G GRCh38
NC_000005.9:g.14717025T>G , CM000667.1:g.14717025T>G GRCh37
NC_000005.8:g.14770025T>G NCBI36
NG_008273.1:g.159863A>C
NG_008273.2:g.159870A>C
NG_051625.1:g.61123T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-81A>C MANE Select ENSP00000284268.6:n.1012-81A>C
ENST00000284268.6:c.1012-81A>C ENSP00000284268.6:n.1012-81A>C
ENST00000502585.1:n.173A>C
NM_054027.4:c.1012-81A>C NP_473368.1:n.1012-81A>C
NM_054027.5:c.1012-81A>C NP_473368.1:n.1012-81A>C
XM_017009644.2:c.928-81A>C XP_016865133.1:n.928-81A>C
NM_054027.6:c.1012-81A>C MANE Select NP_473368.1:n.1012-81A>C
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