Canonical Allele Identifier: CA352913797

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 930996
• ClinVar RCV Id: RCV001197099
• dbSNP Id: rs1699444080
• MyVariant Identifiers: chr3:g.50230807C>T (hg19) ; chr3:g.50193374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193374C>T , CM000665.2:g.50193374C>T	GRCh38
NC_000003.11:g.50230807C>T , CM000665.1:g.50230807C>T	GRCh37
NC_000003.10:g.50205811C>T	NCBI36
NG_009831.1:g.6765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.259C>T MANE Select	ENSP00000232461.3:p.Leu87Phe
ENST00000232461.7:c.259C>T	ENSP00000232461.3:p.Leu87Phe
ENST00000433068.5:c.259C>T	ENSP00000387555.1:p.Leu87Phe
ENST00000440836.1:c.115C>T	ENSP00000403537.1:p.Leu39Phe
NM_000172.3:c.259C>T	NP_000163.2:p.Leu87Phe
NM_144499.2:c.259C>T	NP_653082.1:p.Leu87Phe
XM_011533595.1:c.115C>T	XP_011531897.1:p.Leu39Phe
XM_011533596.1:c.115C>T	XP_011531898.1:p.Leu39Phe
XR_940416.1:n.539C>T
NM_000172.4:c.259C>T	NP_000163.2:p.Leu87Phe
NM_144499.3:c.259C>T MANE Select	NP_653082.1:p.Leu87Phe