Canonical Allele Identifier: CA350879667

Gene: DAW1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227893834G>A , CM000664.2:g.227893834G>A	GRCh38
NC_000002.11:g.228758550G>A , CM000664.1:g.228758550G>A	GRCh37
NC_000002.10:g.228466794G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_178821.3:c.357G>A MANE Select	NP_849143.1:p.Trp119Ter
ENST00000309931.3:c.357G>A MANE Select	ENSP00000311899.2:p.Trp119Ter
NM_001330004.1:c.312G>A	NP_001316933.1:p.Trp104Ter
NM_001330004.2:c.312G>A	NP_001316933.1:p.Trp104Ter
NM_178821.1:c.357G>A	NP_849143.1:p.Trp119Ter
NM_178821.2:c.357G>A	NP_849143.1:p.Trp119Ter
NR_138459.1:n.671G>A
NR_138459.2:n.416G>A
ENST00000309931.2:c.357G>A	ENSP00000311899.2:p.Trp119Ter
ENST00000373666.6:c.357G>A	ENSP00000362770.2:p.Trp119Ter
ENST00000454999.5:c.*298G>A	ENSP00000403670.1:n.*298G>A
ENST00000472604.1:n.305G>A
XM_011510755.1:c.312G>A	XP_011509057.1:p.Trp104Ter
XM_017003490.1:c.-232G>A	XP_016858979.1:n.-232G>A