Canonical Allele Identifier: CA359245484
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 2560146
ClinVar RCV Id: RCV003309827
gnomAD v4: 5-14716822-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716822A>G , CM000667.2:g.14716822A>G GRCh38
NC_000005.9:g.14716931A>G , CM000667.1:g.14716931A>G GRCh37
NC_000005.8:g.14769931A>G NCBI36
NG_008273.1:g.159957T>C
NG_008273.2:g.159964T>C
NG_051625.1:g.61029A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1025T>C MANE Select ENSP00000284268.6:p.Met342Thr
ENST00000284268.6:c.1025T>C ENSP00000284268.6:p.Met342Thr
ENST00000502585.1:n.267T>C
NM_054027.4:c.1025T>C NP_473368.1:p.Met342Thr
NM_054027.5:c.1025T>C NP_473368.1:p.Met342Thr
XM_017009644.2:c.941T>C XP_016865133.1:p.Met314Thr
NM_054027.6:c.1025T>C MANE Select NP_473368.1:p.Met342Thr