Canonical Allele Identifier: CA1073456434

Gene: ANKH

Linked Data

• dbSNP Id: rs1580002465
• gnomAD v3: 5-14716919-G-A
• gnomAD v4: 5-14716919-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716919G>A , CM000667.2:g.14716919G>A	GRCh38
NC_000005.9:g.14717028G>A , CM000667.1:g.14717028G>A	GRCh37
NC_000005.8:g.14770028G>A	NCBI36
NG_008273.1:g.159860C>T
NG_008273.2:g.159867C>T
NG_051625.1:g.61126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-84C>T MANE Select	ENSP00000284268.6:n.1012-84C>T
ENST00000284268.6:c.1012-84C>T	ENSP00000284268.6:n.1012-84C>T
ENST00000502585.1:n.170C>T
NM_054027.4:c.1012-84C>T	NP_473368.1:n.1012-84C>T
NM_054027.5:c.1012-84C>T	NP_473368.1:n.1012-84C>T
XM_017009644.2:c.928-84C>T	XP_016865133.1:n.928-84C>T
NM_054027.6:c.1012-84C>T MANE Select	NP_473368.1:n.1012-84C>T