Canonical Allele Identifier: CA412866968

Gene: WAS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48685575T>C , CM000685.2:g.48685575T>C	GRCh38
NC_000023.10:g.48543964T>C , CM000685.1:g.48543964T>C	GRCh37
NC_000023.9:g.48428908T>C	NCBI36
NG_007877.1:g.6779T>C , LRG_125:g.6779T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000377.3:c.302T>C MANE Select	NP_000368.1:p.Leu101Pro
ENST00000376701.5:c.302T>C MANE Select	ENSP00000365891.4:p.Leu101Pro
NM_000377.2:c.302T>C , LRG_125t1:c.302T>C	NP_000368.1:p.Leu101Pro
ENST00000376701.4:c.302T>C	ENSP00000365891.4:p.Leu101Pro
ENST00000450772.5:c.302T>C	ENSP00000410537.1:p.Leu101Pro
ENST00000465982.5:n.337T>C
ENST00000483750.5:n.328T>C
ENST00000483750.6:n.335T>C
ENST00000698625.1:c.302T>C	ENSP00000513844.1:p.Leu101Pro
ENST00000698626.1:c.302T>C	ENSP00000513845.1:p.Leu101Pro
ENST00000698635.1:c.302T>C	ENSP00000513850.1:p.Leu101Pro
XM_011543977.1:c.302T>C	XP_011542279.1:p.Leu101Pro
XM_011543977.2:c.302T>C	XP_011542279.1:p.Leu101Pro
XM_017029786.1:c.302T>C	XP_016885275.1:p.Leu101Pro