Canonical Allele Identifier: CA3209254
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs751312816
ExAC: 5:14871493 T / A
gnomAD v2: 5-14871493-T-A
gnomAD v4: 5-14871384-T-A
MyVariant Identifiers: chr5:g.14871493T>A (hg19) chr5:g.14871384T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871384T>A , CM000667.2:g.14871384T>A GRCh38
NC_000005.9:g.14871493T>A , CM000667.1:g.14871493T>A GRCh37
NC_000005.8:g.14924493T>A NCBI36
NG_008273.1:g.5395A>T
NG_008273.2:g.5402A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.64A>T MANE Select ENSP00000284268.6:p.Ile22Phe
ENST00000284268.6:c.64A>T ENSP00000284268.6:p.Ile22Phe
ENST00000505140.1:c.64A>T ENSP00000426332.1:p.Ile22Phe
ENST00000513115.1:n.89A>T
NM_054027.4:c.64A>T NP_473368.1:p.Ile22Phe
XM_011514067.1:c.64A>T XP_011512369.1:p.Ile22Phe
NM_054027.5:c.64A>T NP_473368.1:p.Ile22Phe
NM_054027.6:c.64A>T MANE Select NP_473368.1:p.Ile22Phe
Search 100 bp 5'
Search 100 bp 3'