Canonical Allele Identifier: CA310791201
Gene: SIRPG HGNC NCBI

Linked Data

dbSNP Id: rs748516544
gnomAD v2: 20-1610947-C-T
gnomAD v4: 20-1630301-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1630301C>T , CM000682.2:g.1630301C>T GRCh38
NC_000020.10:g.1610947C>T , CM000682.1:g.1610947C>T GRCh37
NC_000020.9:g.1558947C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000216927.4:c.754G>A ENSP00000216927.4:p.Ala252Thr
ENST00000303415.7:c.1087G>A MANE Select ENSP00000305529.3:p.Ala363Thr
ENST00000344103.8:c.436G>A ENSP00000342759.4:p.Ala146Thr
ENST00000381580.5:c.988G>A ENSP00000370992.1:p.Ala330Thr
ENST00000381583.6:c.754G>A ENSP00000370995.2:p.Ala252Thr
ENST00000478145.6:n.148G>A
ENST00000497407.2:n.236G>A
NM_001039508.1:c.754G>A NP_001034597.1:p.Ala252Thr
NM_018556.3:c.1087G>A NP_061026.2:p.Ala363Thr
NM_080816.2:c.436G>A NP_543006.2:p.Ala146Thr
XM_005260749.2:c.769G>A XP_005260806.1:p.Ala257Thr
XM_011529286.1:c.988G>A XP_011527588.1:p.Ala330Thr
XM_005260749.4:c.769G>A XP_005260806.1:p.Ala257Thr
XM_011529286.2:c.988G>A XP_011527588.1:p.Ala330Thr
NM_018556.4:c.1087G>A MANE Select NP_061026.2:p.Ala363Thr
NM_080816.3:c.436G>A NP_543006.2:p.Ala146Thr
NM_001039508.2:c.754G>A NP_001034597.1:p.Ala252Thr