Canonical Allele Identifier: CA10404102

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48691108C>T , CM000685.2:g.48691108C>T	GRCh38
NC_000023.10:g.48549499C>T , CM000685.1:g.48549499C>T	GRCh37
NC_000023.9:g.48434443C>T	NCBI36
NG_007877.1:g.12314C>T , LRG_125:g.12314C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000377.3:c.1455C>T MANE Select	NP_000368.1:p.Asp485=
ENST00000376701.5:c.1455C>T MANE Select	ENSP00000365891.4:p.Asp485=
NM_000377.2:c.1455C>T , LRG_125t1:c.1455C>T	NP_000368.1:p.Asp485=
ENST00000376701.4:c.1455C>T	ENSP00000365891.4:p.Asp485=
ENST00000698625.1:c.1455C>T	ENSP00000513844.1:p.Asp485=
ENST00000698626.1:c.1573C>T	ENSP00000513845.1:p.Arg525Ter
ENST00000698635.1:c.*639C>T	ENSP00000513850.1:n.*639C>T
XM_011543977.1:c.1299C>T	XP_011542279.1:p.Asp433=
XM_011543977.2:c.1299C>T	XP_011542279.1:p.Asp433=