Canonical Allele Identifier: CA443372197
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14871491G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871382G>T , CM000667.2:g.14871382G>T GRCh38
NC_000005.9:g.14871491G>T , CM000667.1:g.14871491G>T GRCh37
NC_000005.8:g.14924491G>T NCBI36
NG_008273.1:g.5397C>A
NG_008273.2:g.5404C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.66C>A MANE Select ENSP00000284268.6:p.Ile22=
ENST00000284268.6:c.66C>A ENSP00000284268.6:p.Ile22=
ENST00000505140.1:c.66C>A ENSP00000426332.1:p.Ile22=
ENST00000513115.1:n.91C>A
NM_054027.4:c.66C>A NP_473368.1:p.Ile22=
XM_011514067.1:c.66C>A XP_011512369.1:p.Ile22=
NM_054027.5:c.66C>A NP_473368.1:p.Ile22=
NM_054027.6:c.66C>A MANE Select NP_473368.1:p.Ile22=