Canonical Allele Identifier: CA114769614
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 2183130
ClinVar RCV Id: RCV002615357
dbSNP Id: rs928164677
gnomAD v2: 5-14871456-C-T
gnomAD v3: 5-14871347-C-T
gnomAD v4: 5-14871347-C-T
MyVariant Identifiers: chr5:g.14871456C>T (hg19) chr5:g.14871347C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871347C>T , CM000667.2:g.14871347C>T GRCh38
NC_000005.9:g.14871456C>T , CM000667.1:g.14871456C>T GRCh37
NC_000005.8:g.14924456C>T NCBI36
NG_008273.1:g.5432G>A
NG_008273.2:g.5439G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.96+5G>A MANE Select ENSP00000284268.6:n.96+5G>A
ENST00000284268.6:c.96+5G>A ENSP00000284268.6:n.96+5G>A
ENST00000505140.1:c.101G>A ENSP00000426332.1:p.Ser34Asn
ENST00000513115.1:n.121+5G>A
NM_054027.4:c.96+5G>A NP_473368.1:n.96+5G>A
XM_011514067.1:c.96+5G>A XP_011512369.1:n.96+5G>A
NM_054027.5:c.96+5G>A NP_473368.1:n.96+5G>A
NM_054027.6:c.96+5G>A MANE Select NP_473368.1:n.96+5G>A
Search 100 bp 5'
Search 100 bp 3'