Canonical Allele Identifier: CA1528949260

Gene: ANKH

Linked Data

• dbSNP Id: rs1235723585
• gnomAD v4: 5-14871625-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871625C>A , CM000667.2:g.14871625C>A	GRCh38
NC_000005.9:g.14871734C>A , CM000667.1:g.14871734C>A	GRCh37
NC_000005.8:g.14924734C>A	NCBI36
NG_008273.1:g.5154G>T
NG_008273.2:g.5161G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-178G>T MANE Select	ENSP00000284268.6:n.-178G>T
ENST00000284268.6:c.-178G>T	ENSP00000284268.6:n.-178G>T
ENST00000505140.1:c.-178G>T	ENSP00000426332.1:n.-178G>T
NM_054027.4:c.-178G>T	NP_473368.1:n.-178G>T
XM_011514067.1:c.-178G>T	XP_011512369.1:n.-178G>T
NM_054027.5:c.-178G>T	NP_473368.1:n.-178G>T
NM_054027.6:c.-178G>T MANE Select	NP_473368.1:n.-178G>T