Canonical Allele Identifier: CA10428272
Gene: ALAS2 HGNC NCBI
COSMIC:
COSM382621
MyVariant.info:
GRCh38 chrX:g.55013519G>A
GRCh37 chrX:g.55039952G>A
Revel Score:
ENST00000330807 0.643
ENST00000396198 0.643
ENST00000335854 0.643
gnomAD v2:
X:55039952 G / A
gnomAD v3:
X:55013519 G / A
gnomAD v4:
chrX-55013519-G-A
Joint Max Group AF 0.00059772 (MID)
Genomes Max Group AF 0.0000616 (NFE)
Exomes Max Group AF 0.00063143 (MID)
ClinVar Allele:
352930
ClinVar RCV:
RCV000376222
RCV001572292
RCV001821130
ClinVar Variation:
368592
dbSNP:
199826743
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55013519G>A , CM000685.2:g.55013519G>A GRCh38
NC_000023.10:g.55039952G>A , CM000685.1:g.55039952G>A GRCh37
NC_000023.9:g.55056677G>A NCBI36
NG_008983.1:g.22546C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650242.1:c.1567C>T MANE Select ENSP00000497236.1:p.His523Tyr
ENST00000330807.9:c.1567C>T ENSP00000332369.5:p.His523Tyr
ENST00000335854.8:c.1456C>T ENSP00000337131.4:p.His486Tyr
ENST00000396198.7:c.1528C>T ENSP00000379501.3:p.His510Tyr
ENST00000498636.1:n.728+1228C>T
NM_000032.4:c.1567C>T NP_000023.2:p.His523Tyr
NM_001037967.3:c.1456C>T NP_001033056.1:p.His486Tyr
NM_001037968.3:c.1528C>T NP_001033057.1:p.His510Tyr
XM_005261995.2:c.1639C>T XP_005262052.1:p.His547Tyr
XM_011530771.1:c.706C>T XP_011529073.1:p.His236Tyr
NM_000032.5:c.1567C>T MANE Select NP_000023.2:p.His523Tyr
NM_001037967.4:c.1456C>T NP_001033056.1:p.His486Tyr
NM_001037968.4:c.1528C>T NP_001033057.1:p.His510Tyr
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