Canonical Allele Identifier: CA359245263

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716721-A-T
• MyVariant Identifiers: chr5:g.14716830A>T (hg19) ; chr5:g.14716721A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716721A>T , CM000667.2:g.14716721A>T	GRCh38
NC_000005.9:g.14716830A>T , CM000667.1:g.14716830A>T	GRCh37
NC_000005.8:g.14769830A>T	NCBI36
NG_008273.1:g.160058T>A
NG_008273.2:g.160065T>A
NG_051625.1:g.60928A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1126T>A MANE Select	ENSP00000284268.6:p.Phe376Ile
ENST00000284268.6:c.1126T>A	ENSP00000284268.6:p.Phe376Ile
ENST00000502585.1:n.368T>A
NM_054027.4:c.1126T>A	NP_473368.1:p.Phe376Ile
NM_054027.5:c.1126T>A	NP_473368.1:p.Phe376Ile
XM_017009644.2:c.1042T>A	XP_016865133.1:p.Phe348Ile
NM_054027.6:c.1126T>A MANE Select	NP_473368.1:p.Phe376Ile