Canonical Allele Identifier: CA13947654
Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 885679
dbSNP Id: rs1243163

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94378369G>A , CM000676.2:g.94378369G>A GRCh38
NC_000014.8:g.94844706G>A , CM000676.1:g.94844706G>A GRCh37
NC_000014.7:g.93914459G>A NCBI36
NG_008290.1:g.17324C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393087.9:c.*80C>T MANE Select ENSP00000376802.4:n.*80C>T
ENST00000355814.8:c.*80C>T ENSP00000348068.4:n.*80C>T
ENST00000393087.8:c.*80C>T ENSP00000376802.4:n.*80C>T
ENST00000437397.5:c.*80C>T ENSP00000408474.1:n.*80C>T
ENST00000440909.5:c.*80C>T ENSP00000390299.1:n.*80C>T
ENST00000448921.5:c.*80C>T ENSP00000416066.1:n.*80C>T
NM_000295.4:c.*80C>T NP_000286.3:n.*80C>T
NM_001002235.2:c.*80C>T NP_001002235.1:n.*80C>T
NM_001002236.2:c.*80C>T NP_001002236.1:n.*80C>T
NM_001127700.1:c.*80C>T NP_001121172.1:n.*80C>T
NM_001127701.1:c.*80C>T NP_001121173.1:n.*80C>T
NM_001127702.1:c.*80C>T NP_001121174.1:n.*80C>T
NM_001127703.1:c.*80C>T NP_001121175.1:n.*80C>T
NM_001127704.1:c.*80C>T NP_001121176.1:n.*80C>T
NM_001127705.1:c.*80C>T NP_001121177.1:n.*80C>T
NM_001127706.1:c.*80C>T NP_001121178.1:n.*80C>T
NM_001127707.1:c.*80C>T NP_001121179.1:n.*80C>T
NM_000295.5:c.*80C>T MANE Select NP_000286.3:n.*80C>T
NM_001002235.3:c.*80C>T NP_001002235.1:n.*80C>T
NM_001002236.3:c.*80C>T NP_001002236.1:n.*80C>T
NM_001127700.2:c.*80C>T NP_001121172.1:n.*80C>T
NM_001127701.2:c.*80C>T NP_001121173.1:n.*80C>T
NM_001127702.2:c.*80C>T NP_001121174.1:n.*80C>T
NM_001127703.2:c.*80C>T NP_001121175.1:n.*80C>T
NM_001127704.2:c.*80C>T NP_001121176.1:n.*80C>T
NM_001127705.2:c.*80C>T NP_001121177.1:n.*80C>T
NM_001127706.2:c.*80C>T NP_001121178.1:n.*80C>T
NM_001127707.2:c.*80C>T NP_001121179.1:n.*80C>T