Canonical Allele Identifier: CA7329238
Gene: SERPINA5 HGNC NCBI
COSMIC:
COSM4148328 (not active)
MyVariant.info:
GRCh38 chr14:g.94587553G>A
GRCh37 chr14:g.95053890G>A
Revel Score:
ENST00000554220 0.166
ENST00000553780 0.166
ENST00000554760 0.166
ENST00000554866 0.166
ENST00000329597 (MANE Select) 0.166
ENST00000556775 0.166
ENST00000553511 0.166
ENST00000554633 0.166
ENST00000555681 0.166
ENST00000554276 0.166
ENST00000557598 0.166
gnomAD v2:
14:95053890 G / A
gnomAD v3:
14:94587553 G / A
gnomAD v4:
chr14-94587553-G-A
Joint Max Group AF 0.899853 (AFR)
Genomes Max Group AF 0.88785705 (AFR)
Exomes Max Group AF 0.90945266 (AFR)
dbSNP:
6115
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94587553G>A , CM000676.2:g.94587553G>A GRCh38
NC_000014.8:g.95053890G>A , CM000676.1:g.95053890G>A GRCh37
NC_000014.7:g.94123643G>A NCBI36
NG_032908.2:g.31112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329597.12:c.191G>A MANE Select ENSP00000333203.7:p.Ser64Asn
ENST00000329597.11:c.191G>A ENSP00000333203.7:p.Ser64Asn
ENST00000553511.1:c.191G>A ENSP00000451215.1:p.Ser64Asn
ENST00000553780.5:c.191G>A ENSP00000450837.1:p.Ser64Asn
ENST00000554220.5:c.191G>A ENSP00000450484.1:p.Ser64Asn
ENST00000554276.1:c.191G>A ENSP00000451610.1:p.Ser64Asn
ENST00000554633.5:c.191G>A ENSP00000451697.1:p.Ser64Asn
ENST00000554760.5:c.191G>A ENSP00000452469.1:p.Ser64Asn
ENST00000554866.5:c.191G>A ENSP00000451126.1:p.Ser64Asn
ENST00000555681.1:c.191G>A ENSP00000451650.1:p.Ser64Asn
ENST00000556730.1:n.308G>A
ENST00000556775.5:c.191G>A ENSP00000450745.1:p.Ser64Asn
ENST00000557598.1:c.191G>A ENSP00000450485.1:p.Ser64Asn
NM_000624.5:c.191G>A NP_000615.3:p.Ser64Asn
NM_000624.6:c.191G>A MANE Select NP_000615.3:p.Ser64Asn
Search 100 bp 5'
Search 100 bp 3'