Canonical Allele Identifier: CA359245258
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716829A>C (hg19) chr5:g.14716720A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716720A>C , CM000667.2:g.14716720A>C GRCh38
NC_000005.9:g.14716829A>C , CM000667.1:g.14716829A>C GRCh37
NC_000005.8:g.14769829A>C NCBI36
NG_008273.1:g.160059T>G
NG_008273.2:g.160066T>G
NG_051625.1:g.60927A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1127T>G MANE Select ENSP00000284268.6:p.Phe376Cys
ENST00000284268.6:c.1127T>G ENSP00000284268.6:p.Phe376Cys
ENST00000502585.1:n.369T>G
NM_054027.4:c.1127T>G NP_473368.1:p.Phe376Cys
NM_054027.5:c.1127T>G NP_473368.1:p.Phe376Cys
XM_017009644.2:c.1043T>G XP_016865133.1:p.Phe348Cys
NM_054027.6:c.1127T>G MANE Select NP_473368.1:p.Phe376Cys
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