Canonical Allele Identifier: CA557887551

Gene: ANKH

Linked Data

• dbSNP Id: rs766254763
• gnomAD v2: 5-14716984-T-G
• gnomAD v4: 5-14716875-T-G
• MyVariant Identifiers: chr5:g.14716984T>G (hg19) ; chr5:g.14716875T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716875T>G , CM000667.2:g.14716875T>G	GRCh38
NC_000005.9:g.14716984T>G , CM000667.1:g.14716984T>G	GRCh37
NC_000005.8:g.14769984T>G	NCBI36
NG_008273.1:g.159904A>C
NG_008273.2:g.159911A>C
NG_051625.1:g.61082T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-40A>C MANE Select	ENSP00000284268.6:n.1012-40A>C
ENST00000284268.6:c.1012-40A>C	ENSP00000284268.6:n.1012-40A>C
ENST00000502585.1:n.214A>C
NM_054027.4:c.1012-40A>C	NP_473368.1:n.1012-40A>C
NM_054027.5:c.1012-40A>C	NP_473368.1:n.1012-40A>C
XM_017009644.2:c.928-40A>C	XP_016865133.1:n.928-40A>C
NM_054027.6:c.1012-40A>C MANE Select	NP_473368.1:n.1012-40A>C