Canonical Allele Identifier: CA7245825
Gene: SRSF5 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.69771456A>G , CM000676.2:g.69771456A>G GRCh38
NC_000014.8:g.70238173A>G , CM000676.1:g.70238173A>G GRCh37
NC_000014.7:g.69307926A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000557154.6:c.814A>G MANE Select ENSP00000451088.1:p.Asn272Asp
ENST00000394366.6:c.814A>G ENSP00000377892.2:p.Asn272Asp
ENST00000553521.5:c.814A>G ENSP00000452123.1:p.Asn272Asp
ENST00000553635.5:c.805A>G ENSP00000451391.1:p.Asn269Asp
ENST00000554465.5:n.2496A>G
ENST00000554929.1:n.488A>G
ENST00000555547.5:c.*1353A>G ENSP00000474409.1:n.*1353A>G
ENST00000556184.5:n.2257A>G
ENST00000556587.5:n.1314A>G
ENST00000556647.1:n.467A>G
ENST00000557154.5:c.814A>G ENSP00000451088.1:p.Asn272Asp
NM_001039465.1:c.814A>G NP_001034554.1:p.Asn272Asp
NM_006925.3:c.814A>G NP_008856.2:p.Asn272Asp
XM_005267998.1:c.814A>G XP_005268055.1:p.Asn272Asp
XM_005267999.1:c.811A>G XP_005268056.1:p.Asn271Asp
XM_005268000.1:c.811A>G XP_005268057.1:p.Asn271Asp
XM_011537077.1:c.715A>G XP_011535379.1:p.Asn239Asp
XR_943505.1:n.1950A>G
XR_943506.1:n.1930A>G
NM_001320214.1:c.814A>G NP_001307143.1:p.Asn272Asp
NM_006925.4:c.814A>G NP_008856.2:p.Asn272Asp
XM_005267999.2:c.811A>G XP_005268056.1:p.Asn271Asp
XM_005268000.2:c.811A>G XP_005268057.1:p.Asn271Asp
XM_011537077.3:c.715A>G XP_011535379.1:p.Asn239Asp
XM_017021593.2:c.811A>G XP_016877082.1:p.Asn271Asp
XM_017021594.2:c.433A>G XP_016877083.1:p.Asn145Asp
XR_001750508.2:n.1509A>G
XR_001750509.1:n.2028A>G
XR_001750510.2:n.1930A>G
XR_001750512.1:n.1604A>G
XR_001750513.2:n.1506A>G
XR_001750514.2:n.1926A>G
XR_943505.2:n.1933A>G
XR_943506.2:n.1929A>G
NM_001039465.2:c.814A>G NP_001034554.1:p.Asn272Asp
NM_001320214.2:c.814A>G MANE Select NP_001307143.1:p.Asn272Asp
NM_006925.5:c.814A>G NP_008856.2:p.Asn272Asp