Canonical Allele Identifier: CA2673310740

Gene: ANKH

Linked Data

• gnomAD v4: 5-14717017-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14717017C>A , CM000667.2:g.14717017C>A	GRCh38
NC_000005.9:g.14717126C>A , CM000667.1:g.14717126C>A	GRCh37
NC_000005.8:g.14770126C>A	NCBI36
NG_008273.1:g.159762G>T
NG_008273.2:g.159769G>T
NG_051625.1:g.61224C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-182G>T MANE Select	ENSP00000284268.6:n.1012-182G>T
ENST00000284268.6:c.1012-182G>T	ENSP00000284268.6:n.1012-182G>T
ENST00000502585.1:n.72G>T
NM_054027.4:c.1012-182G>T	NP_473368.1:n.1012-182G>T
NM_054027.5:c.1012-182G>T	NP_473368.1:n.1012-182G>T
XM_017009644.2:c.928-182G>T	XP_016865133.1:n.928-182G>T
NM_054027.6:c.1012-182G>T MANE Select	NP_473368.1:n.1012-182G>T