Canonical Allele Identifier: CA641901822

Gene: WAS

Linked Data

• dbSNP Id: rs1557006992
• gnomAD v2: X-48546648-A-C
• gnomAD v4: X-48688259-A-C
• MyVariant Identifiers: chrX:g.48546648A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48688259A>C , CM000685.2:g.48688259A>C	GRCh38
NC_000023.10:g.48546648A>C , CM000685.1:g.48546648A>C	GRCh37
NC_000023.9:g.48431592A>C	NCBI36
NG_007877.1:g.9463A>C , LRG_125:g.9463A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.973A>C
ENST00000698625.1:c.778-41A>C	ENSP00000513844.1:n.778-41A>C
ENST00000698626.1:c.778-41A>C	ENSP00000513845.1:n.778-41A>C
ENST00000698635.1:c.778-41A>C	ENSP00000513850.1:n.778-41A>C
ENST00000376701.5:c.778-41A>C MANE Select	ENSP00000365891.4:n.778-41A>C
ENST00000376701.4:c.778-41A>C	ENSP00000365891.4:n.778-41A>C
NM_000377.2:c.778-41A>C , LRG_125t1:c.778-41A>C	NP_000368.1:n.778-41A>C
XM_011543977.1:c.778-41A>C	XP_011542279.1:n.778-41A>C
XM_011543977.2:c.778-41A>C	XP_011542279.1:n.778-41A>C
XM_017029786.1:c.778-41A>C	XP_016885275.1:n.778-41A>C
NM_000377.3:c.778-41A>C MANE Select	NP_000368.1:n.778-41A>C