Canonical Allele Identifier: CA913658362

Gene: DSCAML1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117690031T>C , CM000673.2:g.117690031T>C	GRCh38
NC_000011.9:g.117560746T>C , CM000673.1:g.117560746T>C	GRCh37
NC_000011.8:g.117065956T>C	NCBI36
NG_051656.1:g.112231A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020693.4:c.511+86760A>G MANE Select	NP_065744.3:n.511+86760A>G
ENST00000651296.2:c.511+86760A>G MANE Select	ENSP00000498769.1:n.511+86760A>G
NM_001367904.1:c.511+86760A>G	NP_001354833.1:n.511+86760A>G
NM_001367905.1:c.103+86760A>G	NP_001354834.1:n.103+86760A>G
NM_020693.3:c.691+86760A>G	NP_065744.2:n.691+86760A>G
ENST00000321322.6:c.691+86760A>G	ENSP00000315465.6:n.691+86760A>G
ENST00000527706.5:c.102+90724A>G	ENSP00000434335.1:n.102+90724A>G
ENST00000651172.1:c.691+86760A>G	ENSP00000498407.1:n.691+86760A>G
XM_011542917.1:c.511+86760A>G	XP_011541219.1:n.511+86760A>G
XM_011542917.2:c.511+86760A>G	XP_011541219.1:n.511+86760A>G
XM_011542918.1:c.247+86760A>G	XP_011541220.1:n.247+86760A>G