Canonical Allele Identifier: CA2149640

Gene: DAW1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227889939T>A , CM000664.2:g.227889939T>A	GRCh38
NC_000002.11:g.228754655T>A , CM000664.1:g.228754655T>A	GRCh37
NC_000002.10:g.228462899T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_178821.3:c.197T>A MANE Select	NP_849143.1:p.Leu66Ter
ENST00000309931.3:c.197T>A MANE Select	ENSP00000311899.2:p.Leu66Ter
NM_001330004.1:c.152T>A	NP_001316933.1:p.Leu51Ter
NM_001330004.2:c.152T>A	NP_001316933.1:p.Leu51Ter
NM_178821.1:c.197T>A	NP_849143.1:p.Leu66Ter
NM_178821.2:c.197T>A	NP_849143.1:p.Leu66Ter
NR_138459.1:n.511T>A
NR_138459.2:n.256T>A
ENST00000309931.2:c.197T>A	ENSP00000311899.2:p.Leu66Ter
ENST00000373666.6:c.197T>A	ENSP00000362770.2:p.Leu66Ter
ENST00000440997.1:c.152T>A	ENSP00000394853.1:p.Leu51Ter
ENST00000454999.5:c.*138T>A	ENSP00000403670.1:n.*138T>A
ENST00000472604.1:n.145T>A
XM_011510755.1:c.152T>A	XP_011509057.1:p.Leu51Ter
XM_017003490.1:c.-392T>A	XP_016858979.1:n.-392T>A