Canonical Allele Identifier: CA2693642850

Gene: WAS

Linked Data

• gnomAD v4: X-48684015-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48684015G>C , CM000685.2:g.48684015G>C	GRCh38
NC_000023.10:g.48542404G>C , CM000685.1:g.48542404G>C	GRCh37
NC_000023.9:g.48427348G>C	NCBI36
NG_007877.1:g.5219G>C , LRG_125:g.5219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.165+30G>C
ENST00000698625.1:c.132+30G>C	ENSP00000513844.1:n.132+30G>C
ENST00000698626.1:c.132+30G>C	ENSP00000513845.1:n.132+30G>C
ENST00000698635.1:c.132+30G>C	ENSP00000513850.1:n.132+30G>C
ENST00000376701.5:c.132+30G>C MANE Select	ENSP00000365891.4:n.132+30G>C
ENST00000376701.4:c.132+30G>C	ENSP00000365891.4:n.132+30G>C
ENST00000450772.5:c.132+30G>C	ENSP00000410537.1:n.132+30G>C
ENST00000465982.5:n.167+30G>C
ENST00000483750.5:n.158+30G>C
NM_000377.2:c.132+30G>C , LRG_125t1:c.132+30G>C	NP_000368.1:n.132+30G>C
XM_011543977.1:c.132+30G>C	XP_011542279.1:n.132+30G>C
XM_011543977.2:c.132+30G>C	XP_011542279.1:n.132+30G>C
XM_017029786.1:c.132+30G>C	XP_016885275.1:n.132+30G>C
NM_000377.3:c.132+30G>C MANE Select	NP_000368.1:n.132+30G>C