Canonical Allele Identifier: CA2555343827
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14716652-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716652T>G , CM000667.2:g.14716652T>G GRCh38
NC_000005.9:g.14716761T>G , CM000667.1:g.14716761T>G GRCh37
NC_000005.8:g.14769761T>G NCBI36
NG_008273.1:g.160127A>C
NG_008273.2:g.160134A>C
NG_051625.1:g.60859T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1141+54A>C MANE Select ENSP00000284268.6:n.1141+54A>C
ENST00000284268.6:c.1141+54A>C ENSP00000284268.6:n.1141+54A>C
ENST00000502585.1:n.383+54A>C
NM_054027.4:c.1141+54A>C NP_473368.1:n.1141+54A>C
NM_054027.5:c.1141+54A>C NP_473368.1:n.1141+54A>C
XM_017009644.2:c.1057+54A>C XP_016865133.1:n.1057+54A>C
NM_054027.6:c.1141+54A>C MANE Select NP_473368.1:n.1141+54A>C
Search 100 bp 5'
Search 100 bp 3'