Canonical Allele Identifier: CA980743897
Gene: SRR HGNC NCBI

Linked Data

dbSNP Id: rs2075444079
gnomAD v3: 17-2313007-A-G
gnomAD v4: 17-2313007-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2313007A>G , CM000679.2:g.2313007A>G GRCh38
NC_000017.10:g.2216301A>G , CM000679.1:g.2216301A>G GRCh37
NC_000017.9:g.2163051A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000344595.10:c.-4-2550A>G MANE Select ENSP00000339435.5:n.-4-2550A>G
ENST00000344595.9:c.-4-2550A>G ENSP00000339435.5:n.-4-2550A>G
ENST00000570662.2:c.-4-2550A>G ENSP00000460581.2:n.-4-2550A>G
ENST00000572709.5:c.-4-2550A>G ENSP00000458814.1:n.-4-2550A>G
ENST00000574987.1:c.-279-4863A>G ENSP00000461343.1:n.-279-4863A>G
ENST00000575840.5:c.-4-2550A>G ENSP00000461589.1:n.-4-2550A>G
ENST00000576620.5:c.-4-2550A>G ENSP00000461125.1:n.-4-2550A>G
ENST00000576848.1:c.-85+8990A>G ENSP00000476682.1:n.-85+8990A>G
NM_001304803.1:c.-279-4863A>G NP_001291732.1:n.-279-4863A>G
NM_021947.2:c.-4-2550A>G NP_068766.1:n.-4-2550A>G
XM_006721565.2:c.-4-2550A>G XP_006721628.1:n.-4-2550A>G
XM_006721566.2:c.-4-2550A>G XP_006721629.1:n.-4-2550A>G
XM_011523974.1:c.-4-2550A>G XP_011522276.1:n.-4-2550A>G
XM_011523975.1:c.-4-2550A>G XP_011522277.1:n.-4-2550A>G
XM_006721565.3:c.-4-2550A>G XP_006721628.1:n.-4-2550A>G
XM_006721566.3:c.-4-2550A>G XP_006721629.1:n.-4-2550A>G
XM_011523974.3:c.-4-2550A>G XP_011522276.1:n.-4-2550A>G
NM_021947.3:c.-4-2550A>G MANE Select NP_068766.1:n.-4-2550A>G