Canonical Allele Identifier: CA114769615

Gene: ANKH

Linked Data

• dbSNP Id: rs777058473
• gnomAD v4: 5-14871349-T-C
• MyVariant Identifiers: chr5:g.14871458T>C (hg19) ; chr5:g.14871349T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871349T>C , CM000667.2:g.14871349T>C	GRCh38
NC_000005.9:g.14871458T>C , CM000667.1:g.14871458T>C	GRCh37
NC_000005.8:g.14924458T>C	NCBI36
NG_008273.1:g.5430A>G
NG_008273.2:g.5437A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.96+3A>G MANE Select	ENSP00000284268.6:n.96+3A>G
ENST00000284268.6:c.96+3A>G	ENSP00000284268.6:n.96+3A>G
ENST00000505140.1:c.99A>G	ENSP00000426332.1:p.Val33=
ENST00000513115.1:n.121+3A>G
NM_054027.4:c.96+3A>G	NP_473368.1:n.96+3A>G
XM_011514067.1:c.96+3A>G	XP_011512369.1:n.96+3A>G
NM_054027.5:c.96+3A>G	NP_473368.1:n.96+3A>G
NM_054027.6:c.96+3A>G MANE Select	NP_473368.1:n.96+3A>G