Canonical Allele Identifier: CA352912928

Gene: GNAT1

Linked Data

• gnomAD v4: 3-50193302-C-T
• MyVariant Identifiers: chr3:g.50230735C>T (hg19) ; chr3:g.50193302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193302C>T , CM000665.2:g.50193302C>T	GRCh38
NC_000003.11:g.50230735C>T , CM000665.1:g.50230735C>T	GRCh37
NC_000003.10:g.50205739C>T	NCBI36
NG_009831.1:g.6693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.187C>T MANE Select	ENSP00000232461.3:p.Leu63Phe
ENST00000232461.7:c.187C>T	ENSP00000232461.3:p.Leu63Phe
ENST00000433068.5:c.187C>T	ENSP00000387555.1:p.Leu63Phe
ENST00000440836.1:c.43C>T	ENSP00000403537.1:p.Leu15Phe
NM_000172.3:c.187C>T	NP_000163.2:p.Leu63Phe
NM_144499.2:c.187C>T	NP_653082.1:p.Leu63Phe
XM_011533595.1:c.43C>T	XP_011531897.1:p.Leu15Phe
XM_011533596.1:c.43C>T	XP_011531898.1:p.Leu15Phe
XR_940416.1:n.467C>T
NM_000172.4:c.187C>T	NP_000163.2:p.Leu63Phe
NM_144499.3:c.187C>T MANE Select	NP_653082.1:p.Leu63Phe