Canonical Allele Identifier: CA350879814

Gene: DAW1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227893904A>G , CM000664.2:g.227893904A>G	GRCh38
NC_000002.11:g.228758620A>G , CM000664.1:g.228758620A>G	GRCh37
NC_000002.10:g.228466864A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_178821.3:c.427A>G MANE Select	NP_849143.1:p.Asn143Asp
ENST00000309931.3:c.427A>G MANE Select	ENSP00000311899.2:p.Asn143Asp
NM_001330004.1:c.382A>G	NP_001316933.1:p.Asn128Asp
NM_001330004.2:c.382A>G	NP_001316933.1:p.Asn128Asp
NM_178821.1:c.427A>G	NP_849143.1:p.Asn143Asp
NM_178821.2:c.427A>G	NP_849143.1:p.Asn143Asp
NR_138459.1:n.741A>G
NR_138459.2:n.486A>G
ENST00000309931.2:c.427A>G	ENSP00000311899.2:p.Asn143Asp
ENST00000373666.6:c.427A>G	ENSP00000362770.2:p.Asn143Asp
ENST00000454999.5:c.*368A>G	ENSP00000403670.1:n.*368A>G
ENST00000472604.1:n.375A>G
XM_011510755.1:c.382A>G	XP_011509057.1:p.Asn128Asp
XM_017003490.1:c.-162A>G	XP_016858979.1:n.-162A>G