Canonical Allele Identifier: CA412872847

Gene: WAS

Linked Data

• ClinVar Variation Id: 528223
• ClinVar RCV Id: RCV000633308
• dbSNP Id: rs1557007136
• gnomAD v2: X-48547102-C-G
• gnomAD v4: X-48688713-C-G
• MyVariant Identifiers: chrX:g.48547102C>G (hg19) ; chrX:g.48688713C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688713C>G , CM000685.2:g.48688713C>G	GRCh38
NC_000023.10:g.48547102C>G , CM000685.1:g.48547102C>G	GRCh37
NC_000023.9:g.48432046C>G	NCBI36
NG_007877.1:g.9917C>G , LRG_125:g.9917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.229C>G
ENST00000698625.1:c.985C>G	ENSP00000513844.1:p.Pro329Ala
ENST00000698626.1:c.985C>G	ENSP00000513845.1:p.Pro329Ala
ENST00000698635.1:c.985C>G	ENSP00000513850.1:p.Pro329Ala
ENST00000376701.5:c.985C>G MANE Select	ENSP00000365891.4:p.Pro329Ala
ENST00000376701.4:c.985C>G	ENSP00000365891.4:p.Pro329Ala
ENST00000474174.1:n.229C>G
NM_000377.2:c.985C>G , LRG_125t1:c.985C>G	NP_000368.1:p.Pro329Ala
XM_011543977.1:c.932-103C>G	XP_011542279.1:n.932-103C>G
XM_011543977.2:c.932-103C>G	XP_011542279.1:n.932-103C>G
XM_017029786.1:c.985C>G	XP_016885275.1:p.Pro329Ala
NM_000377.3:c.985C>G MANE Select	NP_000368.1:p.Pro329Ala