Canonical Allele Identifier: CA114769608

Gene: ANKH

Linked Data

• dbSNP Id: rs966471178
• gnomAD v3: 5-14871343-G-C
• gnomAD v4: 5-14871343-G-C
• MyVariant Identifiers: chr5:g.14871452G>C (hg19) ; chr5:g.14871343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871343G>C , CM000667.2:g.14871343G>C	GRCh38
NC_000005.9:g.14871452G>C , CM000667.1:g.14871452G>C	GRCh37
NC_000005.8:g.14924452G>C	NCBI36
NG_008273.1:g.5436C>G
NG_008273.2:g.5443C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.96+9C>G MANE Select	ENSP00000284268.6:n.96+9C>G
ENST00000284268.6:c.96+9C>G	ENSP00000284268.6:n.96+9C>G
ENST00000505140.1:c.105C>G	ENSP00000426332.1:p.Pro35=
ENST00000513115.1:n.121+9C>G
NM_054027.4:c.96+9C>G	NP_473368.1:n.96+9C>G
XM_011514067.1:c.96+9C>G	XP_011512369.1:n.96+9C>G
NM_054027.5:c.96+9C>G	NP_473368.1:n.96+9C>G
NM_054027.6:c.96+9C>G MANE Select	NP_473368.1:n.96+9C>G