Canonical Allele Identifier: CA359245306

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14716851C>T (hg19) ; chr5:g.14716742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716742C>T , CM000667.2:g.14716742C>T	GRCh38
NC_000005.9:g.14716851C>T , CM000667.1:g.14716851C>T	GRCh37
NC_000005.8:g.14769851C>T	NCBI36
NG_008273.1:g.160037G>A
NG_008273.2:g.160044G>A
NG_051625.1:g.60949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1105G>A MANE Select	ENSP00000284268.6:p.Val369Ile
ENST00000284268.6:c.1105G>A	ENSP00000284268.6:p.Val369Ile
ENST00000502585.1:n.347G>A
NM_054027.4:c.1105G>A	NP_473368.1:p.Val369Ile
NM_054027.5:c.1105G>A	NP_473368.1:p.Val369Ile
XM_017009644.2:c.1021G>A	XP_016865133.1:p.Val341Ile
NM_054027.6:c.1105G>A MANE Select	NP_473368.1:p.Val369Ile