Canonical Allele Identifier: CA359245569
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14741956A>C (hg19) chr5:g.14741847A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741847A>C , CM000667.2:g.14741847A>C GRCh38
NC_000005.9:g.14741956A>C , CM000667.1:g.14741956A>C GRCh37
NC_000005.8:g.14794956A>C NCBI36
NG_008273.1:g.134932T>G
NG_008273.2:g.134939T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.991T>G MANE Select ENSP00000284268.6:p.Cys331Gly
ENST00000284268.6:c.991T>G ENSP00000284268.6:p.Cys331Gly
ENST00000503939.5:n.503T>G
ENST00000515517.1:n.225T>G
NM_054027.4:c.991T>G NP_473368.1:p.Cys331Gly
XM_011514067.1:c.991T>G XP_011512369.1:p.Cys331Gly
NM_054027.5:c.991T>G NP_473368.1:p.Cys331Gly
XM_017009644.2:c.907T>G XP_016865133.1:p.Cys303Gly
NM_054027.6:c.991T>G MANE Select NP_473368.1:p.Cys331Gly
Search 100 bp 5'
Search 100 bp 3'