Canonical Allele Identifier: CA13998480

Gene: SERPINA1

Linked Data

• dbSNP Id: rs17090745
• gnomAD v2: 14-94856589-C-A
• gnomAD v3: 14-94390252-C-A
• gnomAD v4: 14-94390252-C-A
• MyVariant Identifiers: chr14:g.94856589C>A (hg19) ; chr14:g.94390252C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94390252C>A , CM000676.2:g.94390252C>A	GRCh38
NC_000014.8:g.94856589C>A , CM000676.1:g.94856589C>A	GRCh37
NC_000014.7:g.93926342C>A	NCBI36
NG_008290.1:g.5441G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355814.8:c.-5+168G>T	ENSP00000348068.4:n.-5+168G>T
ENST00000393088.8:c.-319+205G>T	ENSP00000376803.4:n.-319+205G>T
ENST00000404814.8:c.-106+205G>T	ENSP00000385960.4:n.-106+205G>T
ENST00000437397.5:c.-109+168G>T	ENSP00000408474.1:n.-109+168G>T
ENST00000440909.5:c.-5+205G>T	ENSP00000390299.1:n.-5+205G>T
ENST00000448921.5:c.-301+168G>T	ENSP00000416066.1:n.-301+168G>T
ENST00000449399.7:c.-109+205G>T	ENSP00000416354.3:n.-109+205G>T
ENST00000553327.5:c.-109+168G>T	ENSP00000452480.1:n.-109+168G>T
ENST00000555289.5:n.179+205G>T
ENST00000556955.5:c.-5+168G>T	ENSP00000451098.1:n.-5+168G>T
ENST00000557093.1:n.179+205G>T
ENST00000557118.5:c.-301+168G>T	ENSP00000451826.1:n.-301+168G>T
ENST00000557361.5:n.179+205G>T
ENST00000557492.5:c.-298+205G>T	ENSP00000452452.1:n.-298+205G>T
NM_001002235.2:c.-5+205G>T	NP_001002235.1:n.-5+205G>T
NM_001002236.2:c.-319+205G>T	NP_001002236.1:n.-319+205G>T
NM_001127700.1:c.-5+168G>T	NP_001121172.1:n.-5+168G>T
NM_001127701.1:c.-301+168G>T	NP_001121173.1:n.-301+168G>T
NM_001127702.1:c.-109+168G>T	NP_001121174.1:n.-109+168G>T
NM_001127703.1:c.-301+205G>T	NP_001121175.1:n.-301+205G>T
NM_001127704.1:c.-298+205G>T	NP_001121176.1:n.-298+205G>T
NM_001127705.1:c.-316+205G>T	NP_001121177.1:n.-316+205G>T
NM_001127706.1:c.-109+205G>T	NP_001121178.1:n.-109+205G>T
NM_001127707.1:c.-106+205G>T	NP_001121179.1:n.-106+205G>T
XM_017021370.1:c.-244+205G>T	XP_016876859.1:n.-244+205G>T
NM_001002235.3:c.-5+205G>T	NP_001002235.1:n.-5+205G>T
NM_001002236.3:c.-319+205G>T	NP_001002236.1:n.-319+205G>T
NM_001127700.2:c.-5+168G>T	NP_001121172.1:n.-5+168G>T
NM_001127701.2:c.-301+168G>T	NP_001121173.1:n.-301+168G>T
NM_001127702.2:c.-109+168G>T	NP_001121174.1:n.-109+168G>T
NM_001127703.2:c.-301+205G>T	NP_001121175.1:n.-301+205G>T
NM_001127704.2:c.-298+205G>T	NP_001121176.1:n.-298+205G>T
NM_001127705.2:c.-316+205G>T	NP_001121177.1:n.-316+205G>T
NM_001127706.2:c.-109+205G>T	NP_001121178.1:n.-109+205G>T
NM_001127707.2:c.-106+205G>T	NP_001121179.1:n.-106+205G>T