Canonical Allele Identifier: CA352913256

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 2014442
• ClinVar RCV Id: RCV002861498
• MyVariant Identifiers: chr3:g.50230757A>C (hg19) ; chr3:g.50193324A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193324A>C , CM000665.2:g.50193324A>C	GRCh38
NC_000003.11:g.50230757A>C , CM000665.1:g.50230757A>C	GRCh37
NC_000003.10:g.50205761A>C	NCBI36
NG_009831.1:g.6715A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.209A>C MANE Select	ENSP00000232461.3:p.Tyr70Ser
ENST00000232461.7:c.209A>C	ENSP00000232461.3:p.Tyr70Ser
ENST00000433068.5:c.209A>C	ENSP00000387555.1:p.Tyr70Ser
ENST00000440836.1:c.65A>C	ENSP00000403537.1:p.Tyr22Ser
NM_000172.3:c.209A>C	NP_000163.2:p.Tyr70Ser
NM_144499.2:c.209A>C	NP_653082.1:p.Tyr70Ser
XM_011533595.1:c.65A>C	XP_011531897.1:p.Tyr22Ser
XM_011533596.1:c.65A>C	XP_011531898.1:p.Tyr22Ser
XR_940416.1:n.489A>C
NM_000172.4:c.209A>C	NP_000163.2:p.Tyr70Ser
NM_144499.3:c.209A>C MANE Select	NP_653082.1:p.Tyr70Ser