Canonical Allele Identifier: CA114720364
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 1203552
ClinVar RCV Id: RCV001569632
dbSNP Id: rs115293981
gnomAD v2: 5-14717037-G-A
gnomAD v3: 5-14716928-G-A
gnomAD v4: 5-14716928-G-A
MyVariant Identifiers: chr5:g.14717037G>A (hg19) chr5:g.14716928G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716928G>A , CM000667.2:g.14716928G>A GRCh38
NC_000005.9:g.14717037G>A , CM000667.1:g.14717037G>A GRCh37
NC_000005.8:g.14770037G>A NCBI36
NG_008273.1:g.159851C>T
NG_008273.2:g.159858C>T
NG_051625.1:g.61135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-93C>T MANE Select ENSP00000284268.6:n.1012-93C>T
ENST00000284268.6:c.1012-93C>T ENSP00000284268.6:n.1012-93C>T
ENST00000502585.1:n.161C>T
NM_054027.4:c.1012-93C>T NP_473368.1:n.1012-93C>T
NM_054027.5:c.1012-93C>T NP_473368.1:n.1012-93C>T
XM_017009644.2:c.928-93C>T XP_016865133.1:n.928-93C>T
NM_054027.6:c.1012-93C>T MANE Select NP_473368.1:n.1012-93C>T
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Search 100 bp 3'