Canonical Allele Identifier: CA443295567
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716837G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716728G>A , CM000667.2:g.14716728G>A GRCh38
NC_000005.9:g.14716837G>A , CM000667.1:g.14716837G>A GRCh37
NC_000005.8:g.14769837G>A NCBI36
NG_008273.1:g.160051C>T
NG_008273.2:g.160058C>T
NG_051625.1:g.60935G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1119C>T MANE Select ENSP00000284268.6:p.Ile373=
ENST00000284268.6:c.1119C>T ENSP00000284268.6:p.Ile373=
ENST00000502585.1:n.361C>T
NM_054027.4:c.1119C>T NP_473368.1:p.Ile373=
NM_054027.5:c.1119C>T NP_473368.1:p.Ile373=
XM_017009644.2:c.1035C>T XP_016865133.1:p.Ile345=
NM_054027.6:c.1119C>T MANE Select NP_473368.1:p.Ile373=