Canonical Allele Identifier: CA350882442

Gene: DAW1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227921464G>C , CM000664.2:g.227921464G>C	GRCh38
NC_000002.11:g.228786180G>C , CM000664.1:g.228786180G>C	GRCh37
NC_000002.10:g.228494424G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_178821.3:c.1116G>C MANE Select	NP_849143.1:p.Trp372Cys
ENST00000309931.3:c.1116G>C MANE Select	ENSP00000311899.2:p.Trp372Cys
NM_001330004.1:c.1071G>C	NP_001316933.1:p.Trp357Cys
NM_001330004.2:c.1071G>C	NP_001316933.1:p.Trp357Cys
NM_178821.1:c.1116G>C	NP_849143.1:p.Trp372Cys
NM_178821.2:c.1116G>C	NP_849143.1:p.Trp372Cys
NR_138459.1:n.1646G>C
NR_138459.2:n.1391G>C
ENST00000309931.2:c.1116G>C	ENSP00000311899.2:p.Trp372Cys
ENST00000373666.6:c.*222G>C	ENSP00000362770.2:n.*222G>C
XM_011510755.1:c.1071G>C	XP_011509057.1:p.Trp357Cys
XM_017003490.1:c.528G>C	XP_016858979.1:p.Trp176Cys