Canonical Allele Identifier: CA352912062

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 1722179
• ClinVar RCV Id: RCV002295206
• MyVariant Identifiers: chr3:g.50230590C>G (hg19) ; chr3:g.50193157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193157C>G , CM000665.2:g.50193157C>G	GRCh38
NC_000003.11:g.50230590C>G , CM000665.1:g.50230590C>G	GRCh37
NC_000003.10:g.50205594C>G	NCBI36
NG_009831.1:g.6548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.131C>G MANE Select	ENSP00000232461.3:p.Thr44Ser
ENST00000232461.7:c.131C>G	ENSP00000232461.3:p.Thr44Ser
ENST00000433068.5:c.131C>G	ENSP00000387555.1:p.Thr44Ser
ENST00000440836.1:c.-14C>G	ENSP00000403537.1:n.-14C>G
ENST00000467787.1:n.312C>G
NM_000172.3:c.131C>G	NP_000163.2:p.Thr44Ser
NM_144499.2:c.131C>G	NP_653082.1:p.Thr44Ser
XM_011533595.1:c.-14C>G	XP_011531897.1:n.-14C>G
XM_011533596.1:c.-14C>G	XP_011531898.1:n.-14C>G
XR_940416.1:n.411C>G
NM_000172.4:c.131C>G	NP_000163.2:p.Thr44Ser
NM_144499.3:c.131C>G MANE Select	NP_653082.1:p.Thr44Ser