Canonical Allele Identifier: CA359245478
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716929A>C (hg19) chr5:g.14716820A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716820A>C , CM000667.2:g.14716820A>C GRCh38
NC_000005.9:g.14716929A>C , CM000667.1:g.14716929A>C GRCh37
NC_000005.8:g.14769929A>C NCBI36
NG_008273.1:g.159959T>G
NG_008273.2:g.159966T>G
NG_051625.1:g.61027A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1027T>G MANE Select ENSP00000284268.6:p.Phe343Val
ENST00000284268.6:c.1027T>G ENSP00000284268.6:p.Phe343Val
ENST00000502585.1:n.269T>G
NM_054027.4:c.1027T>G NP_473368.1:p.Phe343Val
NM_054027.5:c.1027T>G NP_473368.1:p.Phe343Val
XM_017009644.2:c.943T>G XP_016865133.1:p.Phe315Val
NM_054027.6:c.1027T>G MANE Select NP_473368.1:p.Phe343Val
Search 100 bp 5'
Search 100 bp 3'