Canonical Allele Identifier: CA5908185
Gene: SAAL1 HGNC NCBI
MRGPRX3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.18106008G>C
GRCh37 chr11:g.18127555G>C
Revel Score:
ENST00000524803 (MANE Select) 0.017
ENST00000300013 0.017
ENST00000529318 0.017
ENST00000530180 0.017
gnomAD v2:
11:18127555 G / C
gnomAD v3:
11:18106008 G / C
gnomAD v4:
chr11-18106008-G-C
Joint Max Group AF 0.0000348 (AFR)
Genomes Max Group AF 0.00003259 (AFR)
Exomes Max Group AF 0.00000991 (AFR)
ClinVar RCV:
RCV004148939
ClinVar Variation:
2304824
dbSNP:
775017394
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18106008G>C , CM000673.2:g.18106008G>C GRCh38
NC_000011.9:g.18127555G>C , CM000673.1:g.18127555G>C GRCh37
NC_000011.8:g.18084131G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524803.6:c.34C>G (SAAL1) MANE Select ENSP00000432487.1:p.Arg12Gly
ENST00000300013.8:c.34C>G (SAAL1) ENSP00000300013.4:p.Arg12Gly
ENST00000524803.5:c.34C>G (SAAL1) ENSP00000432487.1:p.Arg12Gly
ENST00000529318.5:c.34C>G (SAAL1) ENSP00000432216.1:p.Arg12Gly
ENST00000530180.1:c.34C>G (SAAL1) ENSP00000431489.1:p.Arg12Gly
ENST00000530736.1:n.78C>G (SAAL1)
ENST00000531581.5:c.34C>G (SAAL1) ENSP00000431160.1:p.Arg12Gly
ENST00000532452.5:c.12C>G (SAAL1)
ENST00000533851.5:n.64C>G (SAAL1)
NM_138421.2:c.34C>G (SAAL1) NP_612430.2:p.Arg12Gly
XM_011519883.1:c.-26+1337G>C (MRGPRX3) XP_011518185.1:n.-26+1337G>C
NM_138421.3:c.34C>G (SAAL1) MANE Select NP_612430.2:p.Arg12Gly
Search 100 bp 5'
Search 100 bp 3'