Canonical Allele Identifier: CA412873627

Gene: WAS

Linked Data

• ClinVar Variation Id: 1951247
• ClinVar RCV Id: RCV002694980
• gnomAD v4: X-48689002-T-C
• MyVariant Identifiers: chrX:g.48547391T>C (hg19) ; chrX:g.48689002T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48689002T>C , CM000685.2:g.48689002T>C	GRCh38
NC_000023.10:g.48547391T>C , CM000685.1:g.48547391T>C	GRCh37
NC_000023.9:g.48432335T>C	NCBI36
NG_007877.1:g.10206T>C , LRG_125:g.10206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.518T>C
ENST00000698625.1:c.1274T>C	ENSP00000513844.1:p.Leu425Pro
ENST00000698626.1:c.1274T>C	ENSP00000513845.1:p.Leu425Pro
ENST00000698635.1:c.1274T>C	ENSP00000513850.1:p.Leu425Pro
ENST00000376701.5:c.1274T>C MANE Select	ENSP00000365891.4:p.Leu425Pro
ENST00000376701.4:c.1274T>C	ENSP00000365891.4:p.Leu425Pro
NM_000377.2:c.1274T>C , LRG_125t1:c.1274T>C	NP_000368.1:p.Leu425Pro
XM_011543977.1:c.1118T>C	XP_011542279.1:p.Leu373Pro
XM_011543977.2:c.1118T>C	XP_011542279.1:p.Leu373Pro
XM_017029786.1:c.1274T>C	XP_016885275.1:p.Leu425Pro
NM_000377.3:c.1274T>C MANE Select	NP_000368.1:p.Leu425Pro