Canonical Allele Identifier: CA359245422
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1203226509
gnomAD v2: 5-14716903-T-G
gnomAD v3: 5-14716794-T-G
gnomAD v4: 5-14716794-T-G
MyVariant Identifiers: chr5:g.14716903T>G (hg19) chr5:g.14716794T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716794T>G , CM000667.2:g.14716794T>G GRCh38
NC_000005.9:g.14716903T>G , CM000667.1:g.14716903T>G GRCh37
NC_000005.8:g.14769903T>G NCBI36
NG_008273.1:g.159985A>C
NG_008273.2:g.159992A>C
NG_051625.1:g.61001T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1053A>C MANE Select ENSP00000284268.6:p.Lys351Asn
ENST00000284268.6:c.1053A>C ENSP00000284268.6:p.Lys351Asn
ENST00000502585.1:n.295A>C
NM_054027.4:c.1053A>C NP_473368.1:p.Lys351Asn
NM_054027.5:c.1053A>C NP_473368.1:p.Lys351Asn
XM_017009644.2:c.969A>C XP_016865133.1:p.Lys323Asn
NM_054027.6:c.1053A>C MANE Select NP_473368.1:p.Lys351Asn
Search 100 bp 5'
Search 100 bp 3'