Canonical Allele Identifier: CA117324
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 5198
ClinVar RCV Id: RCV000005508
dbSNP Id: rs121908409
gnomAD v4: 5-14871434-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871434G>A , CM000667.2:g.14871434G>A GRCh38
NC_000005.9:g.14871543G>A , CM000667.1:g.14871543G>A GRCh37
NC_000005.8:g.14924543G>A NCBI36
NG_008273.1:g.5345C>T
NG_008273.2:g.5352C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.14C>T MANE Select ENSP00000284268.6:p.Pro5Leu
ENST00000284268.6:c.14C>T ENSP00000284268.6:p.Pro5Leu
ENST00000505140.1:c.14C>T ENSP00000426332.1:p.Pro5Leu
ENST00000513115.1:n.39C>T
NM_054027.4:c.14C>T NP_473368.1:p.Pro5Leu
XM_011514067.1:c.14C>T XP_011512369.1:p.Pro5Leu
NM_054027.5:c.14C>T NP_473368.1:p.Pro5Leu
NM_054027.6:c.14C>T MANE Select NP_473368.1:p.Pro5Leu