Canonical Allele Identifier: CA2412540
Community Standard Title: NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter)
Gene: GNAT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193573C>A , CM000665.2:g.50193573C>A GRCh38
NC_000003.11:g.50231006C>A , CM000665.1:g.50231006C>A GRCh37
NC_000003.10:g.50206010C>A NCBI36
NG_009831.1:g.6964C>A

Transcript Alleles

HGVS Amino-acid Change
NM_144499.3:c.359C>A MANE Select NP_653082.1:p.Ser120Ter
ENST00000232461.8:c.359C>A MANE Select ENSP00000232461.3:p.Ser120Ter
NM_000172.3:c.359C>A NP_000163.2:p.Ser120Ter
NM_000172.4:c.359C>A NP_000163.2:p.Ser120Ter
NM_144499.2:c.359C>A NP_653082.1:p.Ser120Ter
ENST00000232461.7:c.359C>A ENSP00000232461.3:p.Ser120Ter
ENST00000433068.5:c.359C>A ENSP00000387555.1:p.Ser120Ter
ENST00000440836.1:c.215C>A ENSP00000403537.1:p.Ser72Ter
ENST00000481246.1:n.2C>A
XM_011533595.1:c.215C>A XP_011531897.1:p.Ser72Ter
XM_011533596.1:c.215C>A XP_011531898.1:p.Ser72Ter
XR_940416.1:n.639C>A
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