Canonical Allele Identifier: CA320759
Gene: ALAS2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.55013527G>A
GRCh37 chrX:g.55039960G>A
Revel Score:
ENST00000330807 0.895
ENST00000396198 0.895
ENST00000335854 0.895
gnomAD v2:
X:55039960 G / A
gnomAD v3:
X:55013527 G / A
gnomAD v4:
chrX-55013527-G-A
Joint Max Group AF 0.00194457 (MID)
Genomes Max Group AF 0.00184406 (NFE)
Exomes Max Group AF 0.00204667 (MID)
ClinVar Allele:
212027
ClinVar RCV:
RCV000196345
RCV000911423
RCV000990843
ClinVar Variation:
214088
dbSNP:
201062903
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55013527G>A , CM000685.2:g.55013527G>A GRCh38
NC_000023.10:g.55039960G>A , CM000685.1:g.55039960G>A GRCh37
NC_000023.9:g.55056685G>A NCBI36
NG_008983.1:g.22538C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650242.1:c.1559C>T MANE Select ENSP00000497236.1:p.Pro520Leu
ENST00000330807.9:c.1559C>T ENSP00000332369.5:p.Pro520Leu
ENST00000335854.8:c.1448C>T ENSP00000337131.4:p.Pro483Leu
ENST00000396198.7:c.1520C>T ENSP00000379501.3:p.Pro507Leu
ENST00000498636.1:n.728+1220C>T
NM_000032.4:c.1559C>T NP_000023.2:p.Pro520Leu
NM_001037967.3:c.1448C>T NP_001033056.1:p.Pro483Leu
NM_001037968.3:c.1520C>T NP_001033057.1:p.Pro507Leu
XM_005261995.2:c.1631C>T XP_005262052.1:p.Pro544Leu
XM_011530771.1:c.698C>T XP_011529073.1:p.Pro233Leu
NM_000032.5:c.1559C>T MANE Select NP_000023.2:p.Pro520Leu
NM_001037967.4:c.1448C>T NP_001033056.1:p.Pro483Leu
NM_001037968.4:c.1520C>T NP_001033057.1:p.Pro507Leu
Search 100 bp 5'
Search 100 bp 3'