Canonical Allele Identifier: CA352912549
Gene: GNAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193275C>A , CM000665.2:g.50193275C>A GRCh38
NC_000003.11:g.50230708C>A , CM000665.1:g.50230708C>A GRCh37
NC_000003.10:g.50205712C>A NCBI36
NG_009831.1:g.6666C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.160C>A MANE Select ENSP00000232461.3:p.Gln54Lys
ENST00000232461.7:c.160C>A ENSP00000232461.3:p.Gln54Lys
ENST00000433068.5:c.160C>A ENSP00000387555.1:p.Gln54Lys
ENST00000440836.1:c.16C>A ENSP00000403537.1:p.Gln6Lys
NM_000172.3:c.160C>A NP_000163.2:p.Gln54Lys
NM_144499.2:c.160C>A NP_653082.1:p.Gln54Lys
XM_011533595.1:c.16C>A XP_011531897.1:p.Gln6Lys
XM_011533596.1:c.16C>A XP_011531898.1:p.Gln6Lys
XR_940416.1:n.440C>A
NM_000172.4:c.160C>A NP_000163.2:p.Gln54Lys
NM_144499.3:c.160C>A MANE Select NP_653082.1:p.Gln54Lys