Canonical Allele Identifier: CA443289698
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 3017758
ClinVar RCV Id: RCV003874357
dbSNP Id: rs1434540901
gnomAD v2: 5-14769193-G-A
gnomAD v4: 5-14769084-G-A
MyVariant Identifiers: chr5:g.14769193G>A (hg19) chr5:g.14769084G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14769084G>A , CM000667.2:g.14769084G>A GRCh38
NC_000005.9:g.14769193G>A , CM000667.1:g.14769193G>A GRCh37
NC_000005.8:g.14822193G>A NCBI36
NG_008273.1:g.107695C>T
NG_008273.2:g.107702C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.204C>T MANE Select ENSP00000284268.6:p.Asp68=
ENST00000646501.1:c.67C>T
ENST00000284268.6:c.204C>T ENSP00000284268.6:p.Asp68=
ENST00000503389.1:n.210C>T
ENST00000513115.1:n.229C>T
NM_054027.4:c.204C>T NP_473368.1:p.Asp68=
XM_011514067.1:c.204C>T XP_011512369.1:p.Asp68=
NM_054027.5:c.204C>T NP_473368.1:p.Asp68=
XM_017009644.2:c.120C>T XP_016865133.1:p.Asp40=
NM_054027.6:c.204C>T MANE Select NP_473368.1:p.Asp68=
Search 100 bp 5'
Search 100 bp 3'