Canonical Allele Identifier: CA1132960282

Gene: WAS

Linked Data

• dbSNP Id: rs2062409908
• gnomAD v3: X-48683811-T-C
• gnomAD v4: X-48683811-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48683811T>C , CM000685.2:g.48683811T>C	GRCh38
NC_000023.10:g.48542200T>C , CM000685.1:g.48542200T>C	GRCh37
NC_000023.9:g.48427144T>C	NCBI36
NG_007877.1:g.5015T>C , LRG_125:g.5015T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698625.1:c.-34-9T>C	ENSP00000513844.1:n.-34-9T>C
ENST00000698635.1:c.-43T>C	ENSP00000513850.1:n.-43T>C
ENST00000376701.5:c.-43T>C MANE Select	ENSP00000365891.4:n.-43T>C
ENST00000376701.4:c.-43T>C	ENSP00000365891.4:n.-43T>C
ENST00000450772.5:c.-34-9T>C	ENSP00000410537.1:n.-34-9T>C
NM_000377.2:c.-43T>C , LRG_125t1:c.-43T>C	NP_000368.1:n.-43T>C
XM_011543977.1:c.-43T>C	XP_011542279.1:n.-43T>C
XM_011543977.2:c.-43T>C	XP_011542279.1:n.-43T>C
XM_017029786.1:c.-43T>C	XP_016885275.1:n.-43T>C
NM_000377.3:c.-43T>C MANE Select	NP_000368.1:n.-43T>C