Canonical Allele Identifier: CA443295609

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14716900G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716791G>T , CM000667.2:g.14716791G>T	GRCh38
NC_000005.9:g.14716900G>T , CM000667.1:g.14716900G>T	GRCh37
NC_000005.8:g.14769900G>T	NCBI36
NG_008273.1:g.159988C>A
NG_008273.2:g.159995C>A
NG_051625.1:g.60998G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1056C>A MANE Select	ENSP00000284268.6:p.Ile352=
ENST00000284268.6:c.1056C>A	ENSP00000284268.6:p.Ile352=
ENST00000502585.1:n.298C>A
NM_054027.4:c.1056C>A	NP_473368.1:p.Ile352=
NM_054027.5:c.1056C>A	NP_473368.1:p.Ile352=
XM_017009644.2:c.972C>A	XP_016865133.1:p.Ile324=
NM_054027.6:c.1056C>A MANE Select	NP_473368.1:p.Ile352=