Canonical Allele Identifier: CA359286052
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs751312816
MyVariant Identifiers: chr5:g.14871493T>C (hg19) chr5:g.14871384T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871384T>C , CM000667.2:g.14871384T>C GRCh38
NC_000005.9:g.14871493T>C , CM000667.1:g.14871493T>C GRCh37
NC_000005.8:g.14924493T>C NCBI36
NG_008273.1:g.5395A>G
NG_008273.2:g.5402A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.64A>G MANE Select ENSP00000284268.6:p.Ile22Val
ENST00000284268.6:c.64A>G ENSP00000284268.6:p.Ile22Val
ENST00000505140.1:c.64A>G ENSP00000426332.1:p.Ile22Val
ENST00000513115.1:n.89A>G
NM_054027.4:c.64A>G NP_473368.1:p.Ile22Val
XM_011514067.1:c.64A>G XP_011512369.1:p.Ile22Val
NM_054027.5:c.64A>G NP_473368.1:p.Ile22Val
NM_054027.6:c.64A>G MANE Select NP_473368.1:p.Ile22Val
Search 100 bp 5'
Search 100 bp 3'