Canonical Allele Identifier: CA875917483

Gene: WAS

Linked Data

• dbSNP Id: rs1447330224
• gnomAD v3: X-48689131-T-C
• gnomAD v4: X-48689131-T-C
• MyVariant Identifiers: chrX:g.48689131T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689131T>C , CM000685.2:g.48689131T>C	GRCh38
NC_000023.10:g.48547520T>C , CM000685.1:g.48547520T>C	GRCh37
NC_000023.9:g.48432464T>C	NCBI36
NG_007877.1:g.10335T>C , LRG_125:g.10335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.582+65T>C
ENST00000698625.1:c.1338+65T>C	ENSP00000513844.1:n.1338+65T>C
ENST00000698626.1:c.1338+65T>C	ENSP00000513845.1:n.1338+65T>C
ENST00000698635.1:c.1338+65T>C	ENSP00000513850.1:n.1338+65T>C
ENST00000376701.5:c.1338+65T>C MANE Select	ENSP00000365891.4:n.1338+65T>C
ENST00000376701.4:c.1338+65T>C	ENSP00000365891.4:n.1338+65T>C
ENST00000470107.1:n.47+65T>C
NM_000377.2:c.1338+65T>C , LRG_125t1:c.1338+65T>C	NP_000368.1:n.1338+65T>C
XM_011543977.1:c.1182+65T>C	XP_011542279.1:n.1182+65T>C
XM_011543977.2:c.1182+65T>C	XP_011542279.1:n.1182+65T>C
XM_017029786.1:c.1338+65T>C	XP_016885275.1:n.1338+65T>C
NM_000377.3:c.1338+65T>C MANE Select	NP_000368.1:n.1338+65T>C