Canonical Allele Identifier: CA443295603

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14716891G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716782G>A , CM000667.2:g.14716782G>A	GRCh38
NC_000005.9:g.14716891G>A , CM000667.1:g.14716891G>A	GRCh37
NC_000005.8:g.14769891G>A	NCBI36
NG_008273.1:g.159997C>T
NG_008273.2:g.160004C>T
NG_051625.1:g.60989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1065C>T MANE Select	ENSP00000284268.6:p.Asp355=
ENST00000284268.6:c.1065C>T	ENSP00000284268.6:p.Asp355=
ENST00000502585.1:n.307C>T
NM_054027.4:c.1065C>T	NP_473368.1:p.Asp355=
NM_054027.5:c.1065C>T	NP_473368.1:p.Asp355=
XM_017009644.2:c.981C>T	XP_016865133.1:p.Asp327=
NM_054027.6:c.1065C>T MANE Select	NP_473368.1:p.Asp355=