Canonical Allele Identifier: CA3208923
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs369763387
ExAC: 5:14716870 G / A
gnomAD v2: 5-14716870-G-A
gnomAD v3: 5-14716761-G-A
gnomAD v4: 5-14716761-G-A
MyVariant Identifiers: chr5:g.14716870G>A (hg19) chr5:g.14716761G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716761G>A , CM000667.2:g.14716761G>A GRCh38
NC_000005.9:g.14716870G>A , CM000667.1:g.14716870G>A GRCh37
NC_000005.8:g.14769870G>A NCBI36
NG_008273.1:g.160018C>T
NG_008273.2:g.160025C>T
NG_051625.1:g.60968G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1086C>T MANE Select ENSP00000284268.6:p.Ala362=
ENST00000284268.6:c.1086C>T ENSP00000284268.6:p.Ala362=
ENST00000502585.1:n.328C>T
NM_054027.4:c.1086C>T NP_473368.1:p.Ala362=
NM_054027.5:c.1086C>T NP_473368.1:p.Ala362=
XM_017009644.2:c.1002C>T XP_016865133.1:p.Ala334=
NM_054027.6:c.1086C>T MANE Select NP_473368.1:p.Ala362=
Search 100 bp 5'
Search 100 bp 3'