Canonical Allele Identifier: CA359253830

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769257T>A (hg19) ; chr5:g.14769148T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769148T>A , CM000667.2:g.14769148T>A	GRCh38
NC_000005.9:g.14769257T>A , CM000667.1:g.14769257T>A	GRCh37
NC_000005.8:g.14822257T>A	NCBI36
NG_008273.1:g.107631A>T
NG_008273.2:g.107638A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.140A>T MANE Select	ENSP00000284268.6:p.Glu47Val
ENST00000646501.1:c.3A>T
ENST00000284268.6:c.140A>T	ENSP00000284268.6:p.Glu47Val
ENST00000503389.1:n.146A>T
ENST00000513115.1:n.165A>T
NM_054027.4:c.140A>T	NP_473368.1:p.Glu47Val
XM_011514067.1:c.140A>T	XP_011512369.1:p.Glu47Val
NM_054027.5:c.140A>T	NP_473368.1:p.Glu47Val
XM_017009644.2:c.56A>T	XP_016865133.1:p.Glu19Val
NM_054027.6:c.140A>T MANE Select	NP_473368.1:p.Glu47Val