Canonical Allele Identifier: CA2412455

Gene: GNAT1

Linked Data

• dbSNP Id: rs776367777
• ExAC: 3:50230585 G / T
• gnomAD v2: 3-50230585-G-T
• gnomAD v4: 3-50193152-G-T
• MyVariant Identifiers: chr3:g.50230585G>T (hg19) ; chr3:g.50193152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193152G>T , CM000665.2:g.50193152G>T	GRCh38
NC_000003.11:g.50230585G>T , CM000665.1:g.50230585G>T	GRCh37
NC_000003.10:g.50205589G>T	NCBI36
NG_009831.1:g.6543G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000232461.8:c.126G>T MANE Select	ENSP00000232461.3:p.Lys42Asn
ENST00000232461.7:c.126G>T	ENSP00000232461.3:p.Lys42Asn
ENST00000433068.5:c.126G>T	ENSP00000387555.1:p.Lys42Asn
ENST00000440836.1:c.-19G>T	ENSP00000403537.1:n.-19G>T
ENST00000467787.1:n.307G>T
NM_000172.3:c.126G>T	NP_000163.2:p.Lys42Asn
NM_144499.2:c.126G>T	NP_653082.1:p.Lys42Asn
XM_011533595.1:c.-19G>T	XP_011531897.1:n.-19G>T
XM_011533596.1:c.-19G>T	XP_011531898.1:n.-19G>T
XR_940416.1:n.406G>T
NM_000172.4:c.126G>T	NP_000163.2:p.Lys42Asn
NM_144499.3:c.126G>T MANE Select	NP_653082.1:p.Lys42Asn