Canonical Allele Identifier: CA359253459

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769193G>T (hg19) ; chr5:g.14769084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769084G>T , CM000667.2:g.14769084G>T	GRCh38
NC_000005.9:g.14769193G>T , CM000667.1:g.14769193G>T	GRCh37
NC_000005.8:g.14822193G>T	NCBI36
NG_008273.1:g.107695C>A
NG_008273.2:g.107702C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.204C>A MANE Select	ENSP00000284268.6:p.Asp68Glu
ENST00000646501.1:c.67C>A
ENST00000284268.6:c.204C>A	ENSP00000284268.6:p.Asp68Glu
ENST00000503389.1:n.210C>A
ENST00000513115.1:n.229C>A
NM_054027.4:c.204C>A	NP_473368.1:p.Asp68Glu
XM_011514067.1:c.204C>A	XP_011512369.1:p.Asp68Glu
NM_054027.5:c.204C>A	NP_473368.1:p.Asp68Glu
XM_017009644.2:c.120C>A	XP_016865133.1:p.Asp40Glu
NM_054027.6:c.204C>A MANE Select	NP_473368.1:p.Asp68Glu