Canonical Allele Identifier: CA359245295

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14716845A>T (hg19) ; chr5:g.14716736A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716736A>T , CM000667.2:g.14716736A>T	GRCh38
NC_000005.9:g.14716845A>T , CM000667.1:g.14716845A>T	GRCh37
NC_000005.8:g.14769845A>T	NCBI36
NG_008273.1:g.160043T>A
NG_008273.2:g.160050T>A
NG_051625.1:g.60943A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1111T>A MANE Select	ENSP00000284268.6:p.Leu371Met
ENST00000284268.6:c.1111T>A	ENSP00000284268.6:p.Leu371Met
ENST00000502585.1:n.353T>A
NM_054027.4:c.1111T>A	NP_473368.1:p.Leu371Met
NM_054027.5:c.1111T>A	NP_473368.1:p.Leu371Met
XM_017009644.2:c.1027T>A	XP_016865133.1:p.Leu343Met
NM_054027.6:c.1111T>A MANE Select	NP_473368.1:p.Leu371Met