Canonical Allele Identifier: CA359245459

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716813-G-A
• MyVariant Identifiers: chr5:g.14716922G>A (hg19) ; chr5:g.14716813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716813G>A , CM000667.2:g.14716813G>A	GRCh38
NC_000005.9:g.14716922G>A , CM000667.1:g.14716922G>A	GRCh37
NC_000005.8:g.14769922G>A	NCBI36
NG_008273.1:g.159966C>T
NG_008273.2:g.159973C>T
NG_051625.1:g.61020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1034C>T MANE Select	ENSP00000284268.6:p.Thr345Ile
ENST00000284268.6:c.1034C>T	ENSP00000284268.6:p.Thr345Ile
ENST00000502585.1:n.276C>T
NM_054027.4:c.1034C>T	NP_473368.1:p.Thr345Ile
NM_054027.5:c.1034C>T	NP_473368.1:p.Thr345Ile
XM_017009644.2:c.950C>T	XP_016865133.1:p.Thr317Ile
NM_054027.6:c.1034C>T MANE Select	NP_473368.1:p.Thr345Ile