Canonical Allele Identifier: CA2693643936

Gene: WAS

Linked Data

• gnomAD v4: X-48688110-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688110G>C , CM000685.2:g.48688110G>C	GRCh38
NC_000023.10:g.48546499G>C , CM000685.1:g.48546499G>C	GRCh37
NC_000023.9:g.48431443G>C	NCBI36
NG_007877.1:g.9314G>C , LRG_125:g.9314G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000483750.6:n.824G>C
ENST00000490627.2:n.228G>C
ENST00000698625.1:c.777+14G>C	ENSP00000513844.1:n.777+14G>C
ENST00000698626.1:c.777+14G>C	ENSP00000513845.1:n.777+14G>C
ENST00000698635.1:c.777+14G>C	ENSP00000513850.1:n.777+14G>C
ENST00000376701.5:c.777+14G>C MANE Select	ENSP00000365891.4:n.777+14G>C
ENST00000376701.4:c.777+14G>C	ENSP00000365891.4:n.777+14G>C
ENST00000465982.5:n.691G>C
ENST00000483750.5:n.817G>C
ENST00000490627.1:n.211G>C
NM_000377.2:c.777+14G>C , LRG_125t1:c.777+14G>C	NP_000368.1:n.777+14G>C
XM_011543977.1:c.777+14G>C	XP_011542279.1:n.777+14G>C
XM_011543977.2:c.777+14G>C	XP_011542279.1:n.777+14G>C
XM_017029786.1:c.777+14G>C	XP_016885275.1:n.777+14G>C
NM_000377.3:c.777+14G>C MANE Select	NP_000368.1:n.777+14G>C