Canonical Allele Identifier: CA14368361
Gene: SRR HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.2304032G>A
GRCh37 chr17:g.2207326G>A
gnomAD v2:
17:2207326 G / A
gnomAD v3:
17:2304032 G / A
gnomAD v4:
chr17-2304032-G-A
Joint Max Group AF 0.35552934 (AMR)
Genomes Max Group AF 0.34737446 (AMR)
Exomes Max Group AF 0.39518499 (AMR)
dbSNP:
3744270
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2304032G>A , CM000679.2:g.2304032G>A GRCh38
NC_000017.10:g.2207326G>A , CM000679.1:g.2207326G>A GRCh37
NC_000017.9:g.2154076G>A NCBI36
NG_033980.1:g.4744C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344595.10:c.-5+15G>A MANE Select ENSP00000339435.5:n.-5+15G>A
ENST00000344595.9:c.-5+15G>A ENSP00000339435.5:n.-5+15G>A
ENST00000572709.5:c.-5+555G>A ENSP00000458814.1:n.-5+555G>A
ENST00000574987.1:c.-280+15G>A ENSP00000461343.1:n.-280+15G>A
ENST00000575840.5:c.-219+15G>A ENSP00000461589.1:n.-219+15G>A
ENST00000576620.5:c.-5+15G>A ENSP00000461125.1:n.-5+15G>A
ENST00000576848.1:c.-85+15G>A ENSP00000476682.1:n.-85+15G>A
NM_001304803.1:c.-280+15G>A NP_001291732.1:n.-280+15G>A
NM_021947.2:c.-5+15G>A NP_068766.1:n.-5+15G>A
XM_006721565.2:c.-5+555G>A XP_006721628.1:n.-5+555G>A
XM_011523975.1:c.-5+15G>A XP_011522277.1:n.-5+15G>A
XM_006721565.3:c.-5+555G>A XP_006721628.1:n.-5+555G>A
NM_021947.3:c.-5+15G>A MANE Select NP_068766.1:n.-5+15G>A
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