Canonical Allele Identifier: CA980743894
Gene: SRR HGNC NCBI

Linked Data

dbSNP Id: rs954963845
gnomAD v3: 17-2313001-G-C
gnomAD v4: 17-2313001-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2313001G>C , CM000679.2:g.2313001G>C GRCh38
NC_000017.10:g.2216295G>C , CM000679.1:g.2216295G>C GRCh37
NC_000017.9:g.2163045G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000344595.10:c.-4-2556G>C MANE Select ENSP00000339435.5:n.-4-2556G>C
ENST00000344595.9:c.-4-2556G>C ENSP00000339435.5:n.-4-2556G>C
ENST00000570662.2:c.-4-2556G>C ENSP00000460581.2:n.-4-2556G>C
ENST00000572709.5:c.-4-2556G>C ENSP00000458814.1:n.-4-2556G>C
ENST00000574987.1:c.-279-4869G>C ENSP00000461343.1:n.-279-4869G>C
ENST00000575840.5:c.-4-2556G>C ENSP00000461589.1:n.-4-2556G>C
ENST00000576620.5:c.-4-2556G>C ENSP00000461125.1:n.-4-2556G>C
ENST00000576848.1:c.-85+8984G>C ENSP00000476682.1:n.-85+8984G>C
NM_001304803.1:c.-279-4869G>C NP_001291732.1:n.-279-4869G>C
NM_021947.2:c.-4-2556G>C NP_068766.1:n.-4-2556G>C
XM_006721565.2:c.-4-2556G>C XP_006721628.1:n.-4-2556G>C
XM_006721566.2:c.-4-2556G>C XP_006721629.1:n.-4-2556G>C
XM_011523974.1:c.-4-2556G>C XP_011522276.1:n.-4-2556G>C
XM_011523975.1:c.-4-2556G>C XP_011522277.1:n.-4-2556G>C
XM_006721565.3:c.-4-2556G>C XP_006721628.1:n.-4-2556G>C
XM_006721566.3:c.-4-2556G>C XP_006721629.1:n.-4-2556G>C
XM_011523974.3:c.-4-2556G>C XP_011522276.1:n.-4-2556G>C
NM_021947.3:c.-4-2556G>C MANE Select NP_068766.1:n.-4-2556G>C