Canonical Allele Identifier: CA443372159
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14871482T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871373T>G , CM000667.2:g.14871373T>G GRCh38
NC_000005.9:g.14871482T>G , CM000667.1:g.14871482T>G GRCh37
NC_000005.8:g.14924482T>G NCBI36
NG_008273.1:g.5406A>C
NG_008273.2:g.5413A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.75A>C MANE Select ENSP00000284268.6:p.Ile25=
ENST00000284268.6:c.75A>C ENSP00000284268.6:p.Ile25=
ENST00000505140.1:c.75A>C ENSP00000426332.1:p.Ile25=
ENST00000513115.1:n.100A>C
NM_054027.4:c.75A>C NP_473368.1:p.Ile25=
XM_011514067.1:c.75A>C XP_011512369.1:p.Ile25=
NM_054027.5:c.75A>C NP_473368.1:p.Ile25=
NM_054027.6:c.75A>C MANE Select NP_473368.1:p.Ile25=