Canonical Allele Identifier: CA516356386
Gene: WAS HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.48688808A>C
GRCh37 chrX:g.48547197A>C
gnomAD v2:
X:48547197 A / C
gnomAD v3:
X:48688808 A / C
gnomAD v4:
chrX-48688808-A-C
Joint Max Group AF 0.00124269 (MID)
Genomes Max Group AF 0.00116096 (NFE)
Exomes Max Group AF 0.0013678 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48688808A>C , CM000685.2:g.48688808A>C GRCh38
NC_000023.10:g.48547197A>C , CM000685.1:g.48547197A>C GRCh37
NC_000023.9:g.48432141A>C NCBI36
NG_007877.1:g.10012A>C , LRG_125:g.10012A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474174.2:n.324A>C
ENST00000698625.1:c.1080A>C ENSP00000513844.1:p.Pro360=
ENST00000698626.1:c.1080A>C ENSP00000513845.1:p.Pro360=
ENST00000698635.1:c.1080A>C ENSP00000513850.1:p.Pro360=
ENST00000376701.5:c.1080A>C MANE Select ENSP00000365891.4:p.Pro360=
ENST00000376701.4:c.1080A>C ENSP00000365891.4:p.Pro360=
ENST00000474174.1:n.324A>C
NM_000377.2:c.1080A>C , LRG_125t1:c.1080A>C NP_000368.1:p.Pro360=
XM_011543977.1:c.932-8A>C XP_011542279.1:n.932-8A>C
XM_011543977.2:c.932-8A>C XP_011542279.1:n.932-8A>C
XM_017029786.1:c.1080A>C XP_016885275.1:p.Pro360=
NM_000377.3:c.1080A>C MANE Select NP_000368.1:p.Pro360=
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