Canonical Allele Identifier: CA121098
Gene: ALAS2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.55014830G>A
GRCh37 chrX:g.55041263G>A
Revel Score:
ENST00000330807 0.900
ENST00000396198 0.900
ENST00000335854 0.900
gnomAD v4:
chrX-55014830-G-A
Joint Max Group AF 3.7e-7 (NFE)
Exomes Max Group AF 4e-7 (NFE)
ClinVar Allele:
25524
ClinVar RCV:
RCV000011231
RCV000254885
ClinVar Variation:
10485
dbSNP:
137852311
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55014830G>A , CM000685.2:g.55014830G>A GRCh38
NC_000023.10:g.55041263G>A , CM000685.1:g.55041263G>A GRCh37
NC_000023.9:g.55057988G>A NCBI36
NG_008983.1:g.21235C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650242.1:c.1354C>T MANE Select ENSP00000497236.1:p.Arg452Cys
ENST00000330807.9:c.1354C>T ENSP00000332369.5:p.Arg452Cys
ENST00000335854.8:c.1243C>T ENSP00000337131.4:p.Arg415Cys
ENST00000396198.7:c.1315C>T ENSP00000379501.3:p.Arg439Cys
ENST00000498636.1:n.645C>T
NM_000032.4:c.1354C>T NP_000023.2:p.Arg452Cys
NM_001037967.3:c.1243C>T NP_001033056.1:p.Arg415Cys
NM_001037968.3:c.1315C>T NP_001033057.1:p.Arg439Cys
XM_005261995.2:c.1426C>T XP_005262052.1:p.Arg476Cys
XM_011530771.1:c.493C>T XP_011529073.1:p.Arg165Cys
NM_000032.5:c.1354C>T MANE Select NP_000023.2:p.Arg452Cys
NM_001037967.4:c.1243C>T NP_001033056.1:p.Arg415Cys
NM_001037968.4:c.1315C>T NP_001033057.1:p.Arg439Cys
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