Canonical Allele Identifier: CA727309812
Gene: SRR HGNC NCBI

Linked Data

dbSNP Id: rs1353371547
gnomAD v3: 17-2312956-C-T
gnomAD v4: 17-2312956-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2312956C>T , CM000679.2:g.2312956C>T GRCh38
NC_000017.10:g.2216250C>T , CM000679.1:g.2216250C>T GRCh37
NC_000017.9:g.2163000C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000344595.10:c.-4-2601C>T MANE Select ENSP00000339435.5:n.-4-2601C>T
ENST00000344595.9:c.-4-2601C>T ENSP00000339435.5:n.-4-2601C>T
ENST00000570662.2:c.-4-2601C>T ENSP00000460581.2:n.-4-2601C>T
ENST00000572709.5:c.-4-2601C>T ENSP00000458814.1:n.-4-2601C>T
ENST00000574987.1:c.-279-4914C>T ENSP00000461343.1:n.-279-4914C>T
ENST00000575840.5:c.-4-2601C>T ENSP00000461589.1:n.-4-2601C>T
ENST00000576620.5:c.-4-2601C>T ENSP00000461125.1:n.-4-2601C>T
ENST00000576848.1:c.-85+8939C>T ENSP00000476682.1:n.-85+8939C>T
NM_001304803.1:c.-279-4914C>T NP_001291732.1:n.-279-4914C>T
NM_021947.2:c.-4-2601C>T NP_068766.1:n.-4-2601C>T
XM_006721565.2:c.-4-2601C>T XP_006721628.1:n.-4-2601C>T
XM_006721566.2:c.-4-2601C>T XP_006721629.1:n.-4-2601C>T
XM_011523974.1:c.-4-2601C>T XP_011522276.1:n.-4-2601C>T
XM_011523975.1:c.-4-2601C>T XP_011522277.1:n.-4-2601C>T
XM_006721565.3:c.-4-2601C>T XP_006721628.1:n.-4-2601C>T
XM_006721566.3:c.-4-2601C>T XP_006721629.1:n.-4-2601C>T
XM_011523974.3:c.-4-2601C>T XP_011522276.1:n.-4-2601C>T
NM_021947.3:c.-4-2601C>T MANE Select NP_068766.1:n.-4-2601C>T