Canonical Allele Identifier: CA390849568
Gene: SERPINA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94382719G>C , CM000676.2:g.94382719G>C GRCh38
NC_000014.8:g.94849056G>C , CM000676.1:g.94849056G>C GRCh37
NC_000014.7:g.93918809G>C NCBI36
NG_008290.1:g.12974C>G

Transcript Alleles

HGVS Amino-acid change
NM_000295.4:c.519C>G NP_000286.3:p.Asp173Glu
NM_001002235.2:c.519C>G NP_001002235.1:p.Asp173Glu
NM_001002236.2:c.519C>G NP_001002236.1:p.Asp173Glu
NM_001127700.1:c.519C>G NP_001121172.1:p.Asp173Glu
NM_001127701.1:c.519C>G NP_001121173.1:p.Asp173Glu
NM_001127702.1:c.519C>G NP_001121174.1:p.Asp173Glu
NM_001127703.1:c.519C>G NP_001121175.1:p.Asp173Glu
NM_001127704.1:c.519C>G NP_001121176.1:p.Asp173Glu
NM_001127705.1:c.519C>G NP_001121177.1:p.Asp173Glu
NM_001127706.1:c.519C>G NP_001121178.1:p.Asp173Glu
NM_001127707.1:c.519C>G NP_001121179.1:p.Asp173Glu
XM_017021370.1:c.519C>G XP_016876859.1:p.Asp173Glu
NM_000295.5:c.519C>G MANE Select NP_000286.3:p.Asp173Glu
NM_001002235.3:c.519C>G NP_001002235.1:p.Asp173Glu
NM_001002236.3:c.519C>G NP_001002236.1:p.Asp173Glu
NM_001127700.2:c.519C>G NP_001121172.1:p.Asp173Glu
NM_001127701.2:c.519C>G NP_001121173.1:p.Asp173Glu
NM_001127702.2:c.519C>G NP_001121174.1:p.Asp173Glu
NM_001127703.2:c.519C>G NP_001121175.1:p.Asp173Glu
NM_001127704.2:c.519C>G NP_001121176.1:p.Asp173Glu
NM_001127705.2:c.519C>G NP_001121177.1:p.Asp173Glu
NM_001127706.2:c.519C>G NP_001121178.1:p.Asp173Glu
NM_001127707.2:c.519C>G NP_001121179.1:p.Asp173Glu
ENST00000355814.8:c.519C>G ENSP00000348068.4:p.Asp173Glu
ENST00000393087.8:c.519C>G ENSP00000376802.4:p.Asp173Glu
ENST00000393088.8:c.519C>G ENSP00000376803.4:p.Asp173Glu
ENST00000402629.1:c.519C>G ENSP00000386094.1:p.Asp173Glu
ENST00000404814.8:c.519C>G ENSP00000385960.4:p.Asp173Glu
ENST00000437397.5:c.519C>G ENSP00000408474.1:p.Asp173Glu
ENST00000440909.5:c.519C>G ENSP00000390299.1:p.Asp173Glu
ENST00000448921.5:c.519C>G ENSP00000416066.1:p.Asp173Glu
ENST00000449399.7:c.519C>G ENSP00000416354.3:p.Asp173Glu
ENST00000489769.1:c.519C>G ENSP00000451525.1:p.Asp173Glu
ENST00000554720.1:c.261C>G ENSP00000450561.1:p.Asp87Glu