Canonical Allele Identifier: CA433682137
Gene: GNAT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.50230579C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193146C>G , CM000665.2:g.50193146C>G GRCh38
NC_000003.11:g.50230579C>G , CM000665.1:g.50230579C>G GRCh37
NC_000003.10:g.50205583C>G NCBI36
NG_009831.1:g.6537C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000232461.8:c.120C>G MANE Select ENSP00000232461.3:p.Ser40=
ENST00000232461.7:c.120C>G ENSP00000232461.3:p.Ser40=
ENST00000433068.5:c.120C>G ENSP00000387555.1:p.Ser40=
ENST00000440836.1:c.-25C>G ENSP00000403537.1:n.-25C>G
ENST00000467787.1:n.301C>G
NM_000172.3:c.120C>G NP_000163.2:p.Ser40=
NM_144499.2:c.120C>G NP_653082.1:p.Ser40=
XM_011533595.1:c.-25C>G XP_011531897.1:n.-25C>G
XM_011533596.1:c.-25C>G XP_011531898.1:n.-25C>G
XR_940416.1:n.400C>G
NM_000172.4:c.120C>G NP_000163.2:p.Ser40=
NM_144499.3:c.120C>G MANE Select NP_653082.1:p.Ser40=