Canonical Allele Identifier: CA359285972

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14871459A>C (hg19) ; chr5:g.14871350A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871350A>C , CM000667.2:g.14871350A>C	GRCh38
NC_000005.9:g.14871459A>C , CM000667.1:g.14871459A>C	GRCh37
NC_000005.8:g.14924459A>C	NCBI36
NG_008273.1:g.5429T>G
NG_008273.2:g.5436T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.96+2T>G MANE Select	ENSP00000284268.6:n.96+2T>G
ENST00000284268.6:c.96+2T>G	ENSP00000284268.6:n.96+2T>G
ENST00000505140.1:c.98T>G	ENSP00000426332.1:p.Val33Gly
ENST00000513115.1:n.121+2T>G
NM_054027.4:c.96+2T>G	NP_473368.1:n.96+2T>G
XM_011514067.1:c.96+2T>G	XP_011512369.1:n.96+2T>G
NM_054027.5:c.96+2T>G	NP_473368.1:n.96+2T>G
NM_054027.6:c.96+2T>G MANE Select	NP_473368.1:n.96+2T>G