Canonical Allele Identifier: CA1073473845

Gene: ANKH

Linked Data

• dbSNP Id: rs1735832271
• gnomAD v3: 5-14871591-G-A
• gnomAD v4: 5-14871591-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871591G>A , CM000667.2:g.14871591G>A	GRCh38
NC_000005.9:g.14871700G>A , CM000667.1:g.14871700G>A	GRCh37
NC_000005.8:g.14924700G>A	NCBI36
NG_008273.1:g.5188C>T
NG_008273.2:g.5195C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-144C>T MANE Select	ENSP00000284268.6:n.-144C>T
ENST00000284268.6:c.-144C>T	ENSP00000284268.6:n.-144C>T
ENST00000505140.1:c.-144C>T	ENSP00000426332.1:n.-144C>T
NM_054027.4:c.-144C>T	NP_473368.1:n.-144C>T
XM_011514067.1:c.-144C>T	XP_011512369.1:n.-144C>T
NM_054027.5:c.-144C>T	NP_473368.1:n.-144C>T
NM_054027.6:c.-144C>T MANE Select	NP_473368.1:n.-144C>T