Canonical Allele Identifier: CA16430415

Gene: DSCAML1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117518217C>T , CM000673.2:g.117518217C>T	GRCh38
NC_000011.9:g.117388932C>T , CM000673.1:g.117388932C>T	GRCh37
NC_000011.8:g.116894142C>T	NCBI36
NG_051656.1:g.284045G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651172.1:c.1690+249G>A	ENSP00000498407.1:n.1690+249G>A
ENST00000651296.2:c.1510+249G>A MANE Select	ENSP00000498769.1:n.1510+249G>A
ENST00000321322.6:c.1690+249G>A	ENSP00000315465.6:n.1690+249G>A
ENST00000527706.5:c.880+249G>A	ENSP00000434335.1:n.880+249G>A
NM_020693.3:c.1690+249G>A	NP_065744.2:n.1690+249G>A
XM_011542917.1:c.1546+249G>A	XP_011541219.1:n.1546+249G>A
XM_011542918.1:c.1282+249G>A	XP_011541220.1:n.1282+249G>A
XM_011542919.1:c.229+249G>A	XP_011541221.1:n.229+249G>A
XM_011542920.1:c.-21+256G>A	XP_011541222.1:n.-21+256G>A
XM_011542917.2:c.1546+249G>A	XP_011541219.1:n.1546+249G>A
XM_011542919.2:c.229+249G>A	XP_011541221.1:n.229+249G>A
XM_011542920.2:c.-21+256G>A	XP_011541222.1:n.-21+256G>A
NM_001367904.1:c.1510+249G>A	NP_001354833.1:n.1510+249G>A
NM_020693.4:c.1510+249G>A MANE Select	NP_065744.3:n.1510+249G>A