Canonical Allele Identifier: CA7625572
Community Standard Title: NM_017975.5(ZWILCH):c.1238G>T (p.Gly413Val)
Gene: ZWILCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66532329G>T , CM000677.2:g.66532329G>T GRCh38
NC_000015.9:g.66824667G>T , CM000677.1:g.66824667G>T GRCh37
NC_000015.8:g.64611721G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017975.5:c.1238G>T MANE Select NP_060445.3:p.Gly413Val
ENST00000307897.10:c.1238G>T MANE Select ENSP00000311429.5:p.Gly413Val
NM_001287821.1:c.896G>T NP_001274750.1:p.Gly299Val
NM_001287821.2:c.896G>T NP_001274750.1:p.Gly299Val
NM_001287822.1:c.896G>T NP_001274751.1:p.Gly299Val
NM_001287822.2:c.896G>T NP_001274751.1:p.Gly299Val
NM_001287823.1:c.896G>T NP_001274752.1:p.Gly299Val
NM_001287823.2:c.896G>T NP_001274752.1:p.Gly299Val
NM_017975.4:c.1238G>T NP_060445.3:p.Gly413Val
ENST00000307897.9:c.1238G>T ENSP00000311429.5:p.Gly413Val
ENST00000446801.6:c.896G>T ENSP00000402217.2:p.Gly299Val
ENST00000535141.6:c.896G>T ENSP00000437749.2:p.Gly299Val
ENST00000565627.5:c.896G>T ENSP00000454737.1:p.Gly299Val
ENST00000613446.4:c.896G>T ENSP00000477955.1:p.Gly299Val
XR_001751344.2:n.1446G>T
XR_001751345.2:n.1546G>T