Canonical Allele Identifier: CA323962
Gene: ALAS2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.55009187T>A
GRCh37 chrX:g.55035620T>A
Revel Score:
ENST00000330807 0.277
ENST00000396198 0.277
ENST00000335854 0.277
gnomAD v2:
X:55035620 T / A
gnomAD v3:
X:55009187 T / A
gnomAD v4:
chrX-55009187-T-A
Joint Max Group AF 0.00613711 (AFR)
Genomes Max Group AF 0.00592552 (AFR)
Exomes Max Group AF 0.00590201 (AFR)
ClinVar Allele:
49400
ClinVar RCV:
RCV000033870
RCV000199418
RCV000990842
ClinVar Variation:
40978
dbSNP:
139596860
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55009187T>A , CM000685.2:g.55009187T>A GRCh38
NC_000023.10:g.55035620T>A , CM000685.1:g.55035620T>A GRCh37
NC_000023.9:g.55052345T>A NCBI36
NG_008983.1:g.26878A>T
NG_012568.1:g.13841T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650242.1:c.1757A>T MANE Select ENSP00000497236.1:p.Tyr586Phe
ENST00000330807.9:c.1757A>T ENSP00000332369.5:p.Tyr586Phe
ENST00000335854.8:c.1646A>T ENSP00000337131.4:p.Tyr549Phe
ENST00000396198.7:c.1718A>T ENSP00000379501.3:p.Tyr573Phe
ENST00000498636.1:n.885A>T
NM_000032.4:c.1757A>T NP_000023.2:p.Tyr586Phe
NM_001037967.3:c.1646A>T NP_001033056.1:p.Tyr549Phe
NM_001037968.3:c.1718A>T NP_001033057.1:p.Tyr573Phe
XM_005261995.2:c.1829A>T XP_005262052.1:p.Tyr610Phe
XM_011530771.1:c.896A>T XP_011529073.1:p.Tyr299Phe
NM_000032.5:c.1757A>T MANE Select NP_000023.2:p.Tyr586Phe
NM_001037967.4:c.1646A>T NP_001033056.1:p.Tyr549Phe
NM_001037968.4:c.1718A>T NP_001033057.1:p.Tyr573Phe
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