Canonical Allele Identifier: CA487622000
Gene: SERPINA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.94849008A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94382671A>G , CM000676.2:g.94382671A>G GRCh38
NC_000014.8:g.94849008A>G , CM000676.1:g.94849008A>G GRCh37
NC_000014.7:g.93918761A>G NCBI36
NG_008290.1:g.13022T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000393087.9:c.567T>C MANE Select ENSP00000376802.4:p.Thr189=
ENST00000636712.1:c.567T>C ENSP00000490054.1:p.Thr189=
ENST00000355814.8:c.567T>C ENSP00000348068.4:p.Thr189=
ENST00000393087.8:c.567T>C ENSP00000376802.4:p.Thr189=
ENST00000393088.8:c.567T>C ENSP00000376803.4:p.Thr189=
ENST00000402629.1:c.567T>C ENSP00000386094.1:p.Thr189=
ENST00000404814.8:c.567T>C ENSP00000385960.4:p.Thr189=
ENST00000437397.5:c.567T>C ENSP00000408474.1:p.Thr189=
ENST00000440909.5:c.567T>C ENSP00000390299.1:p.Thr189=
ENST00000448921.5:c.567T>C ENSP00000416066.1:p.Thr189=
ENST00000449399.7:c.567T>C ENSP00000416354.3:p.Thr189=
ENST00000489769.1:c.567T>C ENSP00000451525.1:p.Thr189=
ENST00000554720.1:c.309T>C ENSP00000450561.1:p.Thr103=
NM_000295.4:c.567T>C NP_000286.3:p.Thr189=
NM_001002235.2:c.567T>C NP_001002235.1:p.Thr189=
NM_001002236.2:c.567T>C NP_001002236.1:p.Thr189=
NM_001127700.1:c.567T>C NP_001121172.1:p.Thr189=
NM_001127701.1:c.567T>C NP_001121173.1:p.Thr189=
NM_001127702.1:c.567T>C NP_001121174.1:p.Thr189=
NM_001127703.1:c.567T>C NP_001121175.1:p.Thr189=
NM_001127704.1:c.567T>C NP_001121176.1:p.Thr189=
NM_001127705.1:c.567T>C NP_001121177.1:p.Thr189=
NM_001127706.1:c.567T>C NP_001121178.1:p.Thr189=
NM_001127707.1:c.567T>C NP_001121179.1:p.Thr189=
XM_017021370.1:c.567T>C XP_016876859.1:p.Thr189=
NM_000295.5:c.567T>C MANE Select NP_000286.3:p.Thr189=
NM_001002235.3:c.567T>C NP_001002235.1:p.Thr189=
NM_001002236.3:c.567T>C NP_001002236.1:p.Thr189=
NM_001127700.2:c.567T>C NP_001121172.1:p.Thr189=
NM_001127701.2:c.567T>C NP_001121173.1:p.Thr189=
NM_001127702.2:c.567T>C NP_001121174.1:p.Thr189=
NM_001127703.2:c.567T>C NP_001121175.1:p.Thr189=
NM_001127704.2:c.567T>C NP_001121176.1:p.Thr189=
NM_001127705.2:c.567T>C NP_001121177.1:p.Thr189=
NM_001127706.2:c.567T>C NP_001121178.1:p.Thr189=
NM_001127707.2:c.567T>C NP_001121179.1:p.Thr189=