Canonical Allele Identifier: CA412872033

Gene: WAS

Linked Data

• gnomAD v4: X-48688053-G-T
• MyVariant Identifiers: chrX:g.48546442G>T (hg19) ; chrX:g.48688053G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688053G>T , CM000685.2:g.48688053G>T	GRCh38
NC_000023.10:g.48546442G>T , CM000685.1:g.48546442G>T	GRCh37
NC_000023.9:g.48431386G>T	NCBI36
NG_007877.1:g.9257G>T , LRG_125:g.9257G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.768-1G>T
ENST00000490627.2:n.172-1G>T
ENST00000698625.1:c.735-1G>T	ENSP00000513844.1:n.735-1G>T
ENST00000698626.1:c.735-1G>T	ENSP00000513845.1:n.735-1G>T
ENST00000698635.1:c.735-1G>T	ENSP00000513850.1:n.735-1G>T
ENST00000376701.5:c.735-1G>T MANE Select	ENSP00000365891.4:n.735-1G>T
ENST00000376701.4:c.735-1G>T	ENSP00000365891.4:n.735-1G>T
ENST00000465982.5:n.635-1G>T
ENST00000483750.5:n.761-1G>T
ENST00000490627.1:n.155-1G>T
NM_000377.2:c.735-1G>T , LRG_125t1:c.735-1G>T	NP_000368.1:n.735-1G>T
XM_011543977.1:c.735-1G>T	XP_011542279.1:n.735-1G>T
XM_011543977.2:c.735-1G>T	XP_011542279.1:n.735-1G>T
XM_017029786.1:c.735-1G>T	XP_016885275.1:n.735-1G>T
NM_000377.3:c.735-1G>T MANE Select	NP_000368.1:n.735-1G>T