LDH info

Canonical Allele Identifier: CA127707
Gene: SERPINA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17982
dbSNP Id: rs121912713

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94378561A>C , CM000676.2:g.94378561A>C GRCh38
NC_000014.8:g.94844898A>C , CM000676.1:g.94844898A>C GRCh37
NC_000014.7:g.93914651A>C NCBI36
NG_008290.1:g.17132T>G

Transcript Alleles

HGVS Amino-acid change
NM_000295.4:c.1145T>G VV NP_000286.3:p.Met382Arg
NM_001002235.2:c.1145T>G VV NP_001002235.1:p.Met382Arg
NM_001002236.2:c.1145T>G VV NP_001002236.1:p.Met382Arg
NM_001127700.1:c.1145T>G VV NP_001121172.1:p.Met382Arg
NM_001127701.1:c.1145T>G VV NP_001121173.1:p.Met382Arg
NM_001127702.1:c.1145T>G VV NP_001121174.1:p.Met382Arg
NM_001127703.1:c.1145T>G VV NP_001121175.1:p.Met382Arg
NM_001127704.1:c.1145T>G VV NP_001121176.1:p.Met382Arg
NM_001127705.1:c.1145T>G VV NP_001121177.1:p.Met382Arg
NM_001127706.1:c.1145T>G VV NP_001121178.1:p.Met382Arg
NM_001127707.1:c.1145T>G VV NP_001121179.1:p.Met382Arg
XM_017021370.1:c.1145T>G XP_016876859.1:p.Met382Arg
NM_000295.5:c.1145T>G VV MANE Preferred NP_000286.3:p.Met382Arg
NM_001002235.3:c.1145T>G VV NP_001002235.1:p.Met382Arg
NM_001002236.3:c.1145T>G VV NP_001002236.1:p.Met382Arg
NM_001127700.2:c.1145T>G VV NP_001121172.1:p.Met382Arg
NM_001127701.2:c.1145T>G VV NP_001121173.1:p.Met382Arg
NM_001127702.2:c.1145T>G VV NP_001121174.1:p.Met382Arg
NM_001127703.2:c.1145T>G VV NP_001121175.1:p.Met382Arg
NM_001127704.2:c.1145T>G VV NP_001121176.1:p.Met382Arg
NM_001127705.2:c.1145T>G VV NP_001121177.1:p.Met382Arg
NM_001127706.2:c.1145T>G VV NP_001121178.1:p.Met382Arg
NM_001127707.2:c.1145T>G VV NP_001121179.1:p.Met382Arg
ENST00000355814.8:c.1145T>G ENSP00000348068.4:p.Met382Arg
ENST00000393087.8:c.1145T>G ENSP00000376802.4:p.Met382Arg
ENST00000393088.8:c.1145T>G ENSP00000376803.4:p.Met382Arg
ENST00000404814.8:c.1145T>G ENSP00000385960.4:p.Met382Arg
ENST00000437397.5:c.1145T>G ENSP00000408474.1:p.Met382Arg
ENST00000440909.5:c.1145T>G ENSP00000390299.1:p.Met382Arg
ENST00000448921.5:c.1145T>G ENSP00000416066.1:p.Met382Arg
ENST00000449399.7:c.1145T>G ENSP00000416354.3:p.Met382Arg
ENST00000489769.1:c.*444T>G ENSP00000451525.1:p.=