Canonical Allele Identifier: CA443289783

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769238C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769129C>A , CM000667.2:g.14769129C>A	GRCh38
NC_000005.9:g.14769238C>A , CM000667.1:g.14769238C>A	GRCh37
NC_000005.8:g.14822238C>A	NCBI36
NG_008273.1:g.107650G>T
NG_008273.2:g.107657G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.159G>T MANE Select	ENSP00000284268.6:p.Gly53=
ENST00000646501.1:c.22G>T
ENST00000284268.6:c.159G>T	ENSP00000284268.6:p.Gly53=
ENST00000503389.1:n.165G>T
ENST00000513115.1:n.184G>T
NM_054027.4:c.159G>T	NP_473368.1:p.Gly53=
XM_011514067.1:c.159G>T	XP_011512369.1:p.Gly53=
NM_054027.5:c.159G>T	NP_473368.1:p.Gly53=
XM_017009644.2:c.75G>T	XP_016865133.1:p.Gly25=
NM_054027.6:c.159G>T MANE Select	NP_473368.1:p.Gly53=