Canonical Allele Identifier: CA487624520
Gene: SERPINA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.95053711C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94587374C>T , CM000676.2:g.94587374C>T GRCh38
NC_000014.8:g.95053711C>T , CM000676.1:g.95053711C>T GRCh37
NC_000014.7:g.94123464C>T NCBI36
NG_032908.2:g.30933C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329597.12:c.12C>T MANE Select ENSP00000333203.7:p.Phe4=
ENST00000329597.11:c.12C>T ENSP00000333203.7:p.Phe4=
ENST00000553511.1:c.12C>T ENSP00000451215.1:p.Phe4=
ENST00000553780.5:c.12C>T ENSP00000450837.1:p.Phe4=
ENST00000554220.5:c.12C>T ENSP00000450484.1:p.Phe4=
ENST00000554276.1:c.12C>T ENSP00000451610.1:p.Phe4=
ENST00000554633.5:c.12C>T ENSP00000451697.1:p.Phe4=
ENST00000554760.5:c.12C>T ENSP00000452469.1:p.Phe4=
ENST00000554866.5:c.12C>T ENSP00000451126.1:p.Phe4=
ENST00000555681.1:c.12C>T ENSP00000451650.1:p.Phe4=
ENST00000556064.1:c.12C>T ENSP00000451487.1:p.Phe4=
ENST00000556730.1:n.129C>T
ENST00000556775.5:c.12C>T ENSP00000450745.1:p.Phe4=
ENST00000557598.1:c.12C>T ENSP00000450485.1:p.Phe4=
NM_000624.5:c.12C>T NP_000615.3:p.Phe4=
NM_000624.6:c.12C>T MANE Select NP_000615.3:p.Phe4=