Canonical Allele Identifier: CA516022571

Gene: WAS

Linked Data

• MyVariant Identifiers: chrX:g.48542686A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48684297A>T , CM000685.2:g.48684297A>T	GRCh38
NC_000023.10:g.48542686A>T , CM000685.1:g.48542686A>T	GRCh37
NC_000023.9:g.48427630A>T	NCBI36
NG_007877.1:g.5501A>T , LRG_125:g.5501A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.180A>T
ENST00000698625.1:c.147A>T	ENSP00000513844.1:p.Ala49=
ENST00000698626.1:c.147A>T	ENSP00000513845.1:p.Ala49=
ENST00000698635.1:c.147A>T	ENSP00000513850.1:p.Ala49=
ENST00000376701.5:c.147A>T MANE Select	ENSP00000365891.4:p.Ala49=
ENST00000376701.4:c.147A>T	ENSP00000365891.4:p.Ala49=
ENST00000450772.5:c.147A>T	ENSP00000410537.1:p.Ala49=
ENST00000465982.5:n.182A>T
ENST00000483750.5:n.173A>T
NM_000377.2:c.147A>T , LRG_125t1:c.147A>T	NP_000368.1:p.Ala49=
XM_011543977.1:c.147A>T	XP_011542279.1:p.Ala49=
XM_011543977.2:c.147A>T	XP_011542279.1:p.Ala49=
XM_017029786.1:c.147A>T	XP_016885275.1:p.Ala49=
NM_000377.3:c.147A>T MANE Select	NP_000368.1:p.Ala49=