Canonical Allele Identifier: CA352913775

Gene: GNAT1

Linked Data

• dbSNP Id: rs1338199628
• gnomAD v3: 3-50193371-A-T
• gnomAD v4: 3-50193371-A-T
• MyVariant Identifiers: chr3:g.50230804A>T (hg19) ; chr3:g.50193371A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193371A>T , CM000665.2:g.50193371A>T	GRCh38
NC_000003.11:g.50230804A>T , CM000665.1:g.50230804A>T	GRCh37
NC_000003.10:g.50205808A>T	NCBI36
NG_009831.1:g.6762A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.256A>T MANE Select	ENSP00000232461.3:p.Thr86Ser
ENST00000232461.7:c.256A>T	ENSP00000232461.3:p.Thr86Ser
ENST00000433068.5:c.256A>T	ENSP00000387555.1:p.Thr86Ser
ENST00000440836.1:c.112A>T	ENSP00000403537.1:p.Thr38Ser
NM_000172.3:c.256A>T	NP_000163.2:p.Thr86Ser
NM_144499.2:c.256A>T	NP_653082.1:p.Thr86Ser
XM_011533595.1:c.112A>T	XP_011531897.1:p.Thr38Ser
XM_011533596.1:c.112A>T	XP_011531898.1:p.Thr38Ser
XR_940416.1:n.536A>T
NM_000172.4:c.256A>T	NP_000163.2:p.Thr86Ser
NM_144499.3:c.256A>T MANE Select	NP_653082.1:p.Thr86Ser