Canonical Allele Identifier: CA971781409
Gene: CHRNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1567047549
gnomAD v3: 15-78565549-T-C
gnomAD v4: 15-78565549-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78565549T>C , CM000677.2:g.78565549T>C GRCh38
NC_000015.9:g.78857891T>C , CM000677.1:g.78857891T>C GRCh37
NC_000015.8:g.76644946T>C NCBI36
NG_023328.1:g.5030T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299565.9:c.-171T>C MANE Select ENSP00000299565.5:n.-171T>C
NM_000745.3:c.-171T>C NP_000736.2:n.-171T>C
NM_001307945.1:c.-171T>C NP_001294874.1:n.-171T>C
XM_005254142.2:c.-171T>C XP_005254199.1:n.-171T>C
NM_001307945.2:c.-171T>C NP_001294874.1:n.-171T>C
NM_000745.4:c.-171T>C MANE Select NP_000736.2:n.-171T>C
NM_001395171.1:c.-171T>C NP_001382100.1:n.-171T>C
NM_001395172.1:c.-171T>C NP_001382101.1:n.-171T>C
NM_001395173.1:c.-171T>C NP_001382102.1:n.-171T>C
NM_001395174.1:c.-171T>C NP_001382103.1:n.-171T>C
NM_001395175.1:c.-171T>C NP_001382104.1:n.-171T>C
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