Canonical Allele Identifier: CA329100048

Gene: WAS

Linked Data

• dbSNP Id: rs1054640875
• gnomAD v2: X-48542435-C-G
• gnomAD v3: X-48684046-C-G
• gnomAD v4: X-48684046-C-G
• MyVariant Identifiers: chrX:g.48542435C>G (hg19) ; chrX:g.48684046C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48684046C>G , CM000685.2:g.48684046C>G	GRCh38
NC_000023.10:g.48542435C>G , CM000685.1:g.48542435C>G	GRCh37
NC_000023.9:g.48427379C>G	NCBI36
NG_007877.1:g.5250C>G , LRG_125:g.5250C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.165+61C>G
ENST00000698625.1:c.132+61C>G	ENSP00000513844.1:n.132+61C>G
ENST00000698626.1:c.132+61C>G	ENSP00000513845.1:n.132+61C>G
ENST00000698635.1:c.132+61C>G	ENSP00000513850.1:n.132+61C>G
ENST00000376701.5:c.132+61C>G MANE Select	ENSP00000365891.4:n.132+61C>G
ENST00000376701.4:c.132+61C>G	ENSP00000365891.4:n.132+61C>G
ENST00000450772.5:c.132+61C>G	ENSP00000410537.1:n.132+61C>G
ENST00000465982.5:n.167+61C>G
ENST00000483750.5:n.158+61C>G
NM_000377.2:c.132+61C>G , LRG_125t1:c.132+61C>G	NP_000368.1:n.132+61C>G
XM_011543977.1:c.132+61C>G	XP_011542279.1:n.132+61C>G
XM_011543977.2:c.132+61C>G	XP_011542279.1:n.132+61C>G
XM_017029786.1:c.132+61C>G	XP_016885275.1:n.132+61C>G
NM_000377.3:c.132+61C>G MANE Select	NP_000368.1:n.132+61C>G