Canonical Allele Identifier: CA390866394

Gene: SERPINA5

Linked Data

• dbSNP Id: rs1232916357
• gnomAD v2: 14-95053701-T-C
• gnomAD v4: 14-94587364-T-C
• MyVariant Identifiers: chr14:g.95053701T>C (hg19) ; chr14:g.94587364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94587364T>C , CM000676.2:g.94587364T>C	GRCh38
NC_000014.8:g.95053701T>C , CM000676.1:g.95053701T>C	GRCh37
NC_000014.7:g.94123454T>C	NCBI36
NG_032908.2:g.30923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329597.12:c.2T>C MANE Select	ENSP00000333203.7:p.Met1Thr
ENST00000329597.11:c.2T>C	ENSP00000333203.7:p.Met1Thr
ENST00000553511.1:c.2T>C	ENSP00000451215.1:p.Met1Thr
ENST00000553780.5:c.2T>C	ENSP00000450837.1:p.Met1Thr
ENST00000554220.5:c.2T>C	ENSP00000450484.1:p.Met1Thr
ENST00000554276.1:c.2T>C	ENSP00000451610.1:p.Met1Thr
ENST00000554633.5:c.2T>C	ENSP00000451697.1:p.Met1Thr
ENST00000554760.5:c.2T>C	ENSP00000452469.1:p.Met1Thr
ENST00000554866.5:c.2T>C	ENSP00000451126.1:p.Met1Thr
ENST00000555681.1:c.2T>C	ENSP00000451650.1:p.Met1Thr
ENST00000556064.1:c.2T>C	ENSP00000451487.1:p.Met1Thr
ENST00000556730.1:n.119T>C
ENST00000556775.5:c.2T>C	ENSP00000450745.1:p.Met1Thr
ENST00000557598.1:c.2T>C	ENSP00000450485.1:p.Met1Thr
NM_000624.5:c.2T>C	NP_000615.3:p.Met1Thr
NM_000624.6:c.2T>C MANE Select	NP_000615.3:p.Met1Thr