Canonical Allele Identifier: CA443281647
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14741948A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741839A>C , CM000667.2:g.14741839A>C GRCh38
NC_000005.9:g.14741948A>C , CM000667.1:g.14741948A>C GRCh37
NC_000005.8:g.14794948A>C NCBI36
NG_008273.1:g.134940T>G
NG_008273.2:g.134947T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.999T>G MANE Select ENSP00000284268.6:p.Ala333=
ENST00000284268.6:c.999T>G ENSP00000284268.6:p.Ala333=
ENST00000503939.5:n.511T>G
ENST00000515517.1:n.233T>G
NM_054027.4:c.999T>G NP_473368.1:p.Ala333=
XM_011514067.1:c.999T>G XP_011512369.1:p.Ala333=
NM_054027.5:c.999T>G NP_473368.1:p.Ala333=
XM_017009644.2:c.915T>G XP_016865133.1:p.Ala305=
NM_054027.6:c.999T>G MANE Select NP_473368.1:p.Ala333=
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