Canonical Allele Identifier: CA602137670

Gene: DSCAML1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117505406G>A , CM000673.2:g.117505406G>A	GRCh38
NC_000011.9:g.117376121G>A , CM000673.1:g.117376121G>A	GRCh37
NC_000011.8:g.116881331G>A	NCBI36
NG_051656.1:g.296856C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020693.4:c.2062+48C>T MANE Select	NP_065744.3:n.2062+48C>T
ENST00000651296.2:c.2062+48C>T MANE Select	ENSP00000498769.1:n.2062+48C>T
NM_001367904.1:c.2062+48C>T	NP_001354833.1:n.2062+48C>T
NM_020693.3:c.2242+48C>T	NP_065744.2:n.2242+48C>T
ENST00000321322.6:c.2242+48C>T	ENSP00000315465.6:n.2242+48C>T
ENST00000527706.5:c.1432+48C>T	ENSP00000434335.1:n.1432+48C>T
ENST00000651172.1:c.2242+48C>T	ENSP00000498407.1:n.2242+48C>T
XM_011542917.1:c.2098+48C>T	XP_011541219.1:n.2098+48C>T
XM_011542917.2:c.2098+48C>T	XP_011541219.1:n.2098+48C>T
XM_011542918.1:c.1834+48C>T	XP_011541220.1:n.1834+48C>T
XM_011542919.1:c.781+48C>T	XP_011541221.1:n.781+48C>T
XM_011542919.2:c.781+48C>T	XP_011541221.1:n.781+48C>T
XM_011542920.1:c.532+48C>T	XP_011541222.1:n.532+48C>T
XM_011542920.2:c.532+48C>T	XP_011541222.1:n.532+48C>T