Canonical Allele Identifier: CA3189754375
Community Standard Title: NM_020693.4(DSCAML1):c.511+1039C=
Gene: DSCAML1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117775752G= , CM000673.2:g.117775752G= GRCh38
NC_000011.9:g.117646467G= , CM000673.1:g.117646467G= GRCh37
NC_000011.8:g.117151677G= NCBI36
NG_051656.1:g.26510C=

Transcript Alleles

HGVS Amino-acid Change
NM_020693.4:c.511+1039C= MANE Select NP_065744.3:n.511+1039C=
ENST00000651296.2:c.511+1039C= MANE Select ENSP00000498769.1:n.511+1039C=
NM_001367904.1:c.511+1039C= NP_001354833.1:n.511+1039C=
NM_001367905.1:c.103+1039C= NP_001354834.1:n.103+1039C=
NM_020693.3:c.691+1039C= NP_065744.2:n.691+1039C=
ENST00000321322.6:c.691+1039C= ENSP00000315465.6:n.691+1039C=
ENST00000527706.5:c.102+5003C= ENSP00000434335.1:n.102+5003C=
ENST00000651172.1:c.691+1039C= ENSP00000498407.1:n.691+1039C=
XM_011542917.1:c.511+1039C= XP_011541219.1:n.511+1039C=
XM_011542917.2:c.511+1039C= XP_011541219.1:n.511+1039C=
XM_011542918.1:c.247+1039C= XP_011541220.1:n.247+1039C=