Canonical Allele Identifier: CA10403821

Gene: WAS

Linked Data

• dbSNP Id: rs781879472
• ExAC: X:48542202 C / T
• gnomAD v2: X-48542202-C-T
• gnomAD v3: X-48683813-C-T
• gnomAD v4: X-48683813-C-T
• MyVariant Identifiers: chrX:g.48542202C>T (hg19) ; chrX:g.48683813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48683813C>T , CM000685.2:g.48683813C>T	GRCh38
NC_000023.10:g.48542202C>T , CM000685.1:g.48542202C>T	GRCh37
NC_000023.9:g.48427146C>T	NCBI36
NG_007877.1:g.5017C>T , LRG_125:g.5017C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698625.1:c.-34-7C>T	ENSP00000513844.1:n.-34-7C>T
ENST00000698635.1:c.-41C>T	ENSP00000513850.1:n.-41C>T
ENST00000376701.5:c.-41C>T MANE Select	ENSP00000365891.4:n.-41C>T
ENST00000376701.4:c.-41C>T	ENSP00000365891.4:n.-41C>T
ENST00000450772.5:c.-34-7C>T	ENSP00000410537.1:n.-34-7C>T
NM_000377.2:c.-41C>T , LRG_125t1:c.-41C>T	NP_000368.1:n.-41C>T
XM_011543977.1:c.-41C>T	XP_011542279.1:n.-41C>T
XM_011543977.2:c.-41C>T	XP_011542279.1:n.-41C>T
XM_017029786.1:c.-41C>T	XP_016885275.1:n.-41C>T
NM_000377.3:c.-41C>T MANE Select	NP_000368.1:n.-41C>T