Canonical Allele Identifier: CA2626279124

Gene: SERPINA1

Linked Data

• gnomAD v4: 14-94378250-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94378250C>T , CM000676.2:g.94378250C>T	GRCh38
NC_000014.8:g.94844587C>T , CM000676.1:g.94844587C>T	GRCh37
NC_000014.7:g.93914340C>T	NCBI36
NG_008290.1:g.17443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393087.9:c.*199G>A MANE Select	ENSP00000376802.4:n.*199G>A
ENST00000355814.8:c.*199G>A	ENSP00000348068.4:n.*199G>A
ENST00000437397.5:c.*199G>A	ENSP00000408474.1:n.*199G>A
ENST00000440909.5:c.*199G>A	ENSP00000390299.1:n.*199G>A
ENST00000448921.5:c.*199G>A	ENSP00000416066.1:n.*199G>A
NM_000295.4:c.*199G>A	NP_000286.3:n.*199G>A
NM_001002235.2:c.*199G>A	NP_001002235.1:n.*199G>A
NM_001002236.2:c.*199G>A	NP_001002236.1:n.*199G>A
NM_001127700.1:c.*199G>A	NP_001121172.1:n.*199G>A
NM_001127701.1:c.*199G>A	NP_001121173.1:n.*199G>A
NM_001127702.1:c.*199G>A	NP_001121174.1:n.*199G>A
NM_001127703.1:c.*199G>A	NP_001121175.1:n.*199G>A
NM_001127704.1:c.*199G>A	NP_001121176.1:n.*199G>A
NM_001127705.1:c.*199G>A	NP_001121177.1:n.*199G>A
NM_001127706.1:c.*199G>A	NP_001121178.1:n.*199G>A
NM_001127707.1:c.*199G>A	NP_001121179.1:n.*199G>A
NM_000295.5:c.*199G>A MANE Select	NP_000286.3:n.*199G>A
NM_001002235.3:c.*199G>A	NP_001002235.1:n.*199G>A
NM_001002236.3:c.*199G>A	NP_001002236.1:n.*199G>A
NM_001127700.2:c.*199G>A	NP_001121172.1:n.*199G>A
NM_001127701.2:c.*199G>A	NP_001121173.1:n.*199G>A
NM_001127702.2:c.*199G>A	NP_001121174.1:n.*199G>A
NM_001127703.2:c.*199G>A	NP_001121175.1:n.*199G>A
NM_001127704.2:c.*199G>A	NP_001121176.1:n.*199G>A
NM_001127705.2:c.*199G>A	NP_001121177.1:n.*199G>A
NM_001127706.2:c.*199G>A	NP_001121178.1:n.*199G>A
NM_001127707.2:c.*199G>A	NP_001121179.1:n.*199G>A