Canonical Allele Identifier: CA2673310469
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs2126415669
gnomAD v4: 5-14716853-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716853A>C , CM000667.2:g.14716853A>C GRCh38
NC_000005.9:g.14716962A>C , CM000667.1:g.14716962A>C GRCh37
NC_000005.8:g.14769962A>C NCBI36
NG_008273.1:g.159926T>G
NG_008273.2:g.159933T>G
NG_051625.1:g.61060A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-18T>G MANE Select ENSP00000284268.6:n.1012-18T>G
ENST00000284268.6:c.1012-18T>G ENSP00000284268.6:n.1012-18T>G
ENST00000502585.1:n.236T>G
NM_054027.4:c.1012-18T>G NP_473368.1:n.1012-18T>G
NM_054027.5:c.1012-18T>G NP_473368.1:n.1012-18T>G
XM_017009644.2:c.928-18T>G XP_016865133.1:n.928-18T>G
NM_054027.6:c.1012-18T>G MANE Select NP_473368.1:n.1012-18T>G
Search 100 bp 5'
Search 100 bp 3'