Canonical Allele Identifier: CA352912605

Gene: GNAT1

Linked Data

• dbSNP Id: rs776566245
• gnomAD v3: 3-50193280-C-G
• gnomAD v4: 3-50193280-C-G
• MyVariant Identifiers: chr3:g.50230713C>G (hg19) ; chr3:g.50193280C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193280C>G , CM000665.2:g.50193280C>G	GRCh38
NC_000003.11:g.50230713C>G , CM000665.1:g.50230713C>G	GRCh37
NC_000003.10:g.50205717C>G	NCBI36
NG_009831.1:g.6671C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.165C>G MANE Select	ENSP00000232461.3:p.Asp55Glu
ENST00000232461.7:c.165C>G	ENSP00000232461.3:p.Asp55Glu
ENST00000433068.5:c.165C>G	ENSP00000387555.1:p.Asp55Glu
ENST00000440836.1:c.21C>G	ENSP00000403537.1:p.Asp7Glu
NM_000172.3:c.165C>G	NP_000163.2:p.Asp55Glu
NM_144499.2:c.165C>G	NP_653082.1:p.Asp55Glu
XM_011533595.1:c.21C>G	XP_011531897.1:p.Asp7Glu
XM_011533596.1:c.21C>G	XP_011531898.1:p.Asp7Glu
XR_940416.1:n.445C>G
NM_000172.4:c.165C>G	NP_000163.2:p.Asp55Glu
NM_144499.3:c.165C>G MANE Select	NP_653082.1:p.Asp55Glu