Canonical Allele Identifier: CA359245558
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14741952A>C (hg19) chr5:g.14741843A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741843A>C , CM000667.2:g.14741843A>C GRCh38
NC_000005.9:g.14741952A>C , CM000667.1:g.14741952A>C GRCh37
NC_000005.8:g.14794952A>C NCBI36
NG_008273.1:g.134936T>G
NG_008273.2:g.134943T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.995T>G MANE Select ENSP00000284268.6:p.Met332Arg
ENST00000284268.6:c.995T>G ENSP00000284268.6:p.Met332Arg
ENST00000503939.5:n.507T>G
ENST00000515517.1:n.229T>G
NM_054027.4:c.995T>G NP_473368.1:p.Met332Arg
XM_011514067.1:c.995T>G XP_011512369.1:p.Met332Arg
NM_054027.5:c.995T>G NP_473368.1:p.Met332Arg
XM_017009644.2:c.911T>G XP_016865133.1:p.Met304Arg
NM_054027.6:c.995T>G MANE Select NP_473368.1:p.Met332Arg
Search 100 bp 5'
Search 100 bp 3'