Canonical Allele Identifier: CA2522699895

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716982-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716982C>A , CM000667.2:g.14716982C>A	GRCh38
NC_000005.9:g.14717091C>A , CM000667.1:g.14717091C>A	GRCh37
NC_000005.8:g.14770091C>A	NCBI36
NG_008273.1:g.159797G>T
NG_008273.2:g.159804G>T
NG_051625.1:g.61189C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-147G>T MANE Select	ENSP00000284268.6:n.1012-147G>T
ENST00000284268.6:c.1012-147G>T	ENSP00000284268.6:n.1012-147G>T
ENST00000502585.1:n.107G>T
NM_054027.4:c.1012-147G>T	NP_473368.1:n.1012-147G>T
NM_054027.5:c.1012-147G>T	NP_473368.1:n.1012-147G>T
XM_017009644.2:c.928-147G>T	XP_016865133.1:n.928-147G>T
NM_054027.6:c.1012-147G>T MANE Select	NP_473368.1:n.1012-147G>T