Canonical Allele Identifier: CA805272837

Gene: ANKH

Linked Data

• dbSNP Id: rs1204824553
• gnomAD v4: 5-14716920-A-G
• MyVariant Identifiers: chr5:g.14717029A>G (hg19) ; chr5:g.14716920A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716920A>G , CM000667.2:g.14716920A>G	GRCh38
NC_000005.9:g.14717029A>G , CM000667.1:g.14717029A>G	GRCh37
NC_000005.8:g.14770029A>G	NCBI36
NG_008273.1:g.159859T>C
NG_008273.2:g.159866T>C
NG_051625.1:g.61127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-85T>C MANE Select	ENSP00000284268.6:n.1012-85T>C
ENST00000284268.6:c.1012-85T>C	ENSP00000284268.6:n.1012-85T>C
ENST00000502585.1:n.169T>C
NM_054027.4:c.1012-85T>C	NP_473368.1:n.1012-85T>C
NM_054027.5:c.1012-85T>C	NP_473368.1:n.1012-85T>C
XM_017009644.2:c.928-85T>C	XP_016865133.1:n.928-85T>C
NM_054027.6:c.1012-85T>C MANE Select	NP_473368.1:n.1012-85T>C