Canonical Allele Identifier: CA443295602
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716888G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716779G>A , CM000667.2:g.14716779G>A GRCh38
NC_000005.9:g.14716888G>A , CM000667.1:g.14716888G>A GRCh37
NC_000005.8:g.14769888G>A NCBI36
NG_008273.1:g.160000C>T
NG_008273.2:g.160007C>T
NG_051625.1:g.60986G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1068C>T MANE Select ENSP00000284268.6:p.Ile356=
ENST00000284268.6:c.1068C>T ENSP00000284268.6:p.Ile356=
ENST00000502585.1:n.310C>T
NM_054027.4:c.1068C>T NP_473368.1:p.Ile356=
NM_054027.5:c.1068C>T NP_473368.1:p.Ile356=
XM_017009644.2:c.984C>T XP_016865133.1:p.Ile328=
NM_054027.6:c.1068C>T MANE Select NP_473368.1:p.Ile356=