Canonical Allele Identifier: CA443295591
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716867A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716758A>G , CM000667.2:g.14716758A>G GRCh38
NC_000005.9:g.14716867A>G , CM000667.1:g.14716867A>G GRCh37
NC_000005.8:g.14769867A>G NCBI36
NG_008273.1:g.160021T>C
NG_008273.2:g.160028T>C
NG_051625.1:g.60965A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1089T>C MANE Select ENSP00000284268.6:p.Phe363=
ENST00000284268.6:c.1089T>C ENSP00000284268.6:p.Phe363=
ENST00000502585.1:n.331T>C
NM_054027.4:c.1089T>C NP_473368.1:p.Phe363=
NM_054027.5:c.1089T>C NP_473368.1:p.Phe363=
XM_017009644.2:c.1005T>C XP_016865133.1:p.Phe335=
NM_054027.6:c.1089T>C MANE Select NP_473368.1:p.Phe363=
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