Canonical Allele Identifier: CA352913100

Gene: GNAT1

Linked Data

• gnomAD v4: 3-50193314-G-A
• MyVariant Identifiers: chr3:g.50230747G>A (hg19) ; chr3:g.50193314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193314G>A , CM000665.2:g.50193314G>A	GRCh38
NC_000003.11:g.50230747G>A , CM000665.1:g.50230747G>A	GRCh37
NC_000003.10:g.50205751G>A	NCBI36
NG_009831.1:g.6705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.199G>A MANE Select	ENSP00000232461.3:p.Ala67Thr
ENST00000232461.7:c.199G>A	ENSP00000232461.3:p.Ala67Thr
ENST00000433068.5:c.199G>A	ENSP00000387555.1:p.Ala67Thr
ENST00000440836.1:c.55G>A	ENSP00000403537.1:p.Ala19Thr
NM_000172.3:c.199G>A	NP_000163.2:p.Ala67Thr
NM_144499.2:c.199G>A	NP_653082.1:p.Ala67Thr
XM_011533595.1:c.55G>A	XP_011531897.1:p.Ala19Thr
XM_011533596.1:c.55G>A	XP_011531898.1:p.Ala19Thr
XR_940416.1:n.479G>A
NM_000172.4:c.199G>A	NP_000163.2:p.Ala67Thr
NM_144499.3:c.199G>A MANE Select	NP_653082.1:p.Ala67Thr