Canonical Allele Identifier: CA121093

Gene: ALAS2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021215C>T , CM000685.2:g.55021215C>T	GRCh38
NC_000023.10:g.55047648C>T , CM000685.1:g.55047648C>T	GRCh37
NC_000023.9:g.55064373C>T	NCBI36
NG_008983.1:g.14850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455688.2:c.259G>A	ENSP00000407204.2:p.Asp87Asn
ENST00000477869.6:c.148G>A	ENSP00000496725.1:p.Asp50Asn
ENST00000493869.2:c.305-711G>A	ENSP00000495713.1:n.305-711G>A
ENST00000650242.1:c.475G>A MANE Select	ENSP00000497236.1:p.Asp159Asn
ENST00000330807.9:c.475G>A	ENSP00000332369.5:p.Asp159Asn
ENST00000335854.8:c.364G>A	ENSP00000337131.4:p.Asp122Asn
ENST00000396198.7:c.436G>A	ENSP00000379501.3:p.Asp146Asn
ENST00000455688.1:c.330G>A
ENST00000463868.5:n.356-711G>A
ENST00000477869.5:n.219G>A
ENST00000493869.1:n.415G>A
NM_000032.4:c.475G>A	NP_000023.2:p.Asp159Asn
NM_001037967.3:c.364G>A	NP_001033056.1:p.Asp122Asn
NM_001037968.3:c.436G>A	NP_001033057.1:p.Asp146Asn
XM_005261995.2:c.547G>A	XP_005262052.1:p.Asp183Asn
XM_011530771.1:c.-223-711G>A	XP_011529073.1:n.-223-711G>A
NM_000032.5:c.475G>A MANE Select	NP_000023.2:p.Asp159Asn
NM_001037967.4:c.364G>A	NP_001033056.1:p.Asp122Asn
NM_001037968.4:c.436G>A	NP_001033057.1:p.Asp146Asn