Canonical Allele Identifier: CA359285974

Gene: ANKH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.96+2T>A MANE Select	ENSP00000284268.6:n.96+2T>A
ENST00000284268.6:c.96+2T>A	ENSP00000284268.6:n.96+2T>A
ENST00000505140.1:c.98T>A	ENSP00000426332.1:p.Val33Glu
ENST00000513115.1:n.121+2T>A
NM_054027.4:c.96+2T>A	NP_473368.1:n.96+2T>A
XM_011514067.1:c.96+2T>A	XP_011512369.1:n.96+2T>A
NM_054027.5:c.96+2T>A	NP_473368.1:n.96+2T>A
NM_054027.6:c.96+2T>A MANE Select	NP_473368.1:n.96+2T>A