Canonical Allele Identifier: CA359286022
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14871478T>G (hg19) chr5:g.14871369T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871369T>G , CM000667.2:g.14871369T>G GRCh38
NC_000005.9:g.14871478T>G , CM000667.1:g.14871478T>G GRCh37
NC_000005.8:g.14924478T>G NCBI36
NG_008273.1:g.5410A>C
NG_008273.2:g.5417A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.79A>C MANE Select ENSP00000284268.6:p.Ile27Leu
ENST00000284268.6:c.79A>C ENSP00000284268.6:p.Ile27Leu
ENST00000505140.1:c.79A>C ENSP00000426332.1:p.Ile27Leu
ENST00000513115.1:n.104A>C
NM_054027.4:c.79A>C NP_473368.1:p.Ile27Leu
XM_011514067.1:c.79A>C XP_011512369.1:p.Ile27Leu
NM_054027.5:c.79A>C NP_473368.1:p.Ile27Leu
NM_054027.6:c.79A>C MANE Select NP_473368.1:p.Ile27Leu
Search 100 bp 5'
Search 100 bp 3'