Canonical Allele Identifier: CA359253857

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769264C>T (hg19) ; chr5:g.14769155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769155C>T , CM000667.2:g.14769155C>T	GRCh38
NC_000005.9:g.14769264C>T , CM000667.1:g.14769264C>T	GRCh37
NC_000005.8:g.14822264C>T	NCBI36
NG_008273.1:g.107624G>A
NG_008273.2:g.107631G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.133G>A MANE Select	ENSP00000284268.6:p.Ala45Thr
ENST00000284268.6:c.133G>A	ENSP00000284268.6:p.Ala45Thr
ENST00000503389.1:n.139G>A
ENST00000513115.1:n.158G>A
NM_054027.4:c.133G>A	NP_473368.1:p.Ala45Thr
XM_011514067.1:c.133G>A	XP_011512369.1:p.Ala45Thr
NM_054027.5:c.133G>A	NP_473368.1:p.Ala45Thr
XM_017009644.2:c.49G>A	XP_016865133.1:p.Ala17Thr
NM_054027.6:c.133G>A MANE Select	NP_473368.1:p.Ala45Thr