Canonical Allele Identifier: CA121074
Gene: ALAS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10468
ClinVar RCV Id: RCV000011214
dbSNP Id: rs137852299

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55014757A>T , CM000685.2:g.55014757A>T GRCh38
NC_000023.10:g.55041190A>T , CM000685.1:g.55041190A>T GRCh37
NC_000023.9:g.55057915A>T NCBI36
NG_008983.1:g.21308T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650242.1:c.1427T>A MANE Select ENSP00000497236.1:p.Ile476Asn
ENST00000330807.9:c.1427T>A ENSP00000332369.5:p.Ile476Asn
ENST00000335854.8:c.1316T>A ENSP00000337131.4:p.Ile439Asn
ENST00000396198.7:c.1388T>A ENSP00000379501.3:p.Ile463Asn
ENST00000498636.1:n.718T>A
NM_000032.4:c.1427T>A NP_000023.2:p.Ile476Asn
NM_001037967.3:c.1316T>A NP_001033056.1:p.Ile439Asn
NM_001037968.3:c.1388T>A NP_001033057.1:p.Ile463Asn
XM_005261995.2:c.1499T>A XP_005262052.1:p.Ile500Asn
XM_011530771.1:c.566T>A XP_011529073.1:p.Ile189Asn
NM_000032.5:c.1427T>A MANE Select NP_000023.2:p.Ile476Asn
NM_001037967.4:c.1316T>A NP_001033056.1:p.Ile439Asn
NM_001037968.4:c.1388T>A NP_001033057.1:p.Ile463Asn