Canonical Allele Identifier: CA3209252
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs758319519
ExAC: 5:14871486 T / C
gnomAD v2: 5-14871486-T-C
gnomAD v4: 5-14871377-T-C
MyVariant Identifiers: chr5:g.14871486T>C (hg19) chr5:g.14871377T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871377T>C , CM000667.2:g.14871377T>C GRCh38
NC_000005.9:g.14871486T>C , CM000667.1:g.14871486T>C GRCh37
NC_000005.8:g.14924486T>C NCBI36
NG_008273.1:g.5402A>G
NG_008273.2:g.5409A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.71A>G MANE Select ENSP00000284268.6:p.Asn24Ser
ENST00000284268.6:c.71A>G ENSP00000284268.6:p.Asn24Ser
ENST00000505140.1:c.71A>G ENSP00000426332.1:p.Asn24Ser
ENST00000513115.1:n.96A>G
NM_054027.4:c.71A>G NP_473368.1:p.Asn24Ser
XM_011514067.1:c.71A>G XP_011512369.1:p.Asn24Ser
NM_054027.5:c.71A>G NP_473368.1:p.Asn24Ser
NM_054027.6:c.71A>G MANE Select NP_473368.1:p.Asn24Ser
Search 100 bp 5'
Search 100 bp 3'