Canonical Allele Identifier: CA359245445

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14716914C>A (hg19) ; chr5:g.14716805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716805C>A , CM000667.2:g.14716805C>A	GRCh38
NC_000005.9:g.14716914C>A , CM000667.1:g.14716914C>A	GRCh37
NC_000005.8:g.14769914C>A	NCBI36
NG_008273.1:g.159974G>T
NG_008273.2:g.159981G>T
NG_051625.1:g.61012C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1042G>T MANE Select	ENSP00000284268.6:p.Val348Leu
ENST00000284268.6:c.1042G>T	ENSP00000284268.6:p.Val348Leu
ENST00000502585.1:n.284G>T
NM_054027.4:c.1042G>T	NP_473368.1:p.Val348Leu
NM_054027.5:c.1042G>T	NP_473368.1:p.Val348Leu
XM_017009644.2:c.958G>T	XP_016865133.1:p.Val320Leu
NM_054027.6:c.1042G>T MANE Select	NP_473368.1:p.Val348Leu