Canonical Allele Identifier: CA412873453

Gene: WAS

Linked Data

• dbSNP Id: rs2062430008
• gnomAD v3: X-48688911-C-G
• gnomAD v4: X-48688911-C-G
• MyVariant Identifiers: chrX:g.48547300C>G (hg19) ; chrX:g.48688911C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688911C>G , CM000685.2:g.48688911C>G	GRCh38
NC_000023.10:g.48547300C>G , CM000685.1:g.48547300C>G	GRCh37
NC_000023.9:g.48432244C>G	NCBI36
NG_007877.1:g.10115C>G , LRG_125:g.10115C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474174.2:n.427C>G
ENST00000698625.1:c.1183C>G	ENSP00000513844.1:p.Pro395Ala
ENST00000698626.1:c.1183C>G	ENSP00000513845.1:p.Pro395Ala
ENST00000698635.1:c.1183C>G	ENSP00000513850.1:p.Pro395Ala
ENST00000376701.5:c.1183C>G MANE Select	ENSP00000365891.4:p.Pro395Ala
ENST00000376701.4:c.1183C>G	ENSP00000365891.4:p.Pro395Ala
ENST00000474174.1:n.427C>G
NM_000377.2:c.1183C>G , LRG_125t1:c.1183C>G	NP_000368.1:p.Pro395Ala
XM_011543977.1:c.1027C>G	XP_011542279.1:p.Pro343Ala
XM_011543977.2:c.1027C>G	XP_011542279.1:p.Pro343Ala
XM_017029786.1:c.1183C>G	XP_016885275.1:p.Pro395Ala
NM_000377.3:c.1183C>G MANE Select	NP_000368.1:p.Pro395Ala