Canonical Allele Identifier: CA433860581

Gene: GNAT1

Linked Data

• gnomAD v4: 3-50193376-C-A
• MyVariant Identifiers: chr3:g.50230809C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193376C>A , CM000665.2:g.50193376C>A	GRCh38
NC_000003.11:g.50230809C>A , CM000665.1:g.50230809C>A	GRCh37
NC_000003.10:g.50205813C>A	NCBI36
NG_009831.1:g.6767C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.261C>A MANE Select	ENSP00000232461.3:p.Leu87=
ENST00000232461.7:c.261C>A	ENSP00000232461.3:p.Leu87=
ENST00000433068.5:c.261C>A	ENSP00000387555.1:p.Leu87=
ENST00000440836.1:c.117C>A	ENSP00000403537.1:p.Leu39=
NM_000172.3:c.261C>A	NP_000163.2:p.Leu87=
NM_144499.2:c.261C>A	NP_653082.1:p.Leu87=
XM_011533595.1:c.117C>A	XP_011531897.1:p.Leu39=
XM_011533596.1:c.117C>A	XP_011531898.1:p.Leu39=
XR_940416.1:n.541C>A
NM_000172.4:c.261C>A	NP_000163.2:p.Leu87=
NM_144499.3:c.261C>A MANE Select	NP_653082.1:p.Leu87=