Canonical Allele Identifier: CA10404043

Gene: WAS

Linked Data

• dbSNP Id: rs782546323
• ExAC: X:48547292 C / T
• gnomAD v2: X-48547292-C-T
• gnomAD v4: X-48688903-C-T
• MyVariant Identifiers: chrX:g.48547292C>T (hg19) ; chrX:g.48688903C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688903C>T , CM000685.2:g.48688903C>T	GRCh38
NC_000023.10:g.48547292C>T , CM000685.1:g.48547292C>T	GRCh37
NC_000023.9:g.48432236C>T	NCBI36
NG_007877.1:g.10107C>T , LRG_125:g.10107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474174.2:n.419C>T
ENST00000698625.1:c.1175C>T	ENSP00000513844.1:p.Pro392Leu
ENST00000698626.1:c.1175C>T	ENSP00000513845.1:p.Pro392Leu
ENST00000698635.1:c.1175C>T	ENSP00000513850.1:p.Pro392Leu
ENST00000376701.5:c.1175C>T MANE Select	ENSP00000365891.4:p.Pro392Leu
ENST00000376701.4:c.1175C>T	ENSP00000365891.4:p.Pro392Leu
ENST00000474174.1:n.419C>T
NM_000377.2:c.1175C>T , LRG_125t1:c.1175C>T	NP_000368.1:p.Pro392Leu
XM_011543977.1:c.1019C>T	XP_011542279.1:p.Pro340Leu
XM_011543977.2:c.1019C>T	XP_011542279.1:p.Pro340Leu
XM_017029786.1:c.1175C>T	XP_016885275.1:p.Pro392Leu
NM_000377.3:c.1175C>T MANE Select	NP_000368.1:p.Pro392Leu