Canonical Allele Identifier: CA727309817
Gene: SRR HGNC NCBI

Linked Data

dbSNP Id: rs1314523065
gnomAD v3: 17-2312959-G-A
gnomAD v4: 17-2312959-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2312959G>A , CM000679.2:g.2312959G>A GRCh38
NC_000017.10:g.2216253G>A , CM000679.1:g.2216253G>A GRCh37
NC_000017.9:g.2163003G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000344595.10:c.-4-2598G>A MANE Select ENSP00000339435.5:n.-4-2598G>A
ENST00000344595.9:c.-4-2598G>A ENSP00000339435.5:n.-4-2598G>A
ENST00000570662.2:c.-4-2598G>A ENSP00000460581.2:n.-4-2598G>A
ENST00000572709.5:c.-4-2598G>A ENSP00000458814.1:n.-4-2598G>A
ENST00000574987.1:c.-279-4911G>A ENSP00000461343.1:n.-279-4911G>A
ENST00000575840.5:c.-4-2598G>A ENSP00000461589.1:n.-4-2598G>A
ENST00000576620.5:c.-4-2598G>A ENSP00000461125.1:n.-4-2598G>A
ENST00000576848.1:c.-85+8942G>A ENSP00000476682.1:n.-85+8942G>A
NM_001304803.1:c.-279-4911G>A NP_001291732.1:n.-279-4911G>A
NM_021947.2:c.-4-2598G>A NP_068766.1:n.-4-2598G>A
XM_006721565.2:c.-4-2598G>A XP_006721628.1:n.-4-2598G>A
XM_006721566.2:c.-4-2598G>A XP_006721629.1:n.-4-2598G>A
XM_011523974.1:c.-4-2598G>A XP_011522276.1:n.-4-2598G>A
XM_011523975.1:c.-4-2598G>A XP_011522277.1:n.-4-2598G>A
XM_006721565.3:c.-4-2598G>A XP_006721628.1:n.-4-2598G>A
XM_006721566.3:c.-4-2598G>A XP_006721629.1:n.-4-2598G>A
XM_011523974.3:c.-4-2598G>A XP_011522276.1:n.-4-2598G>A
NM_021947.3:c.-4-2598G>A MANE Select NP_068766.1:n.-4-2598G>A