Canonical Allele Identifier: CA352912760

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 2116824
• ClinVar RCV Id: RCV003027430
• gnomAD v4: 3-50193291-T-C
• MyVariant Identifiers: chr3:g.50230724T>C (hg19) ; chr3:g.50193291T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193291T>C , CM000665.2:g.50193291T>C	GRCh38
NC_000003.11:g.50230724T>C , CM000665.1:g.50230724T>C	GRCh37
NC_000003.10:g.50205728T>C	NCBI36
NG_009831.1:g.6682T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.176T>C MANE Select	ENSP00000232461.3:p.Leu59Pro
ENST00000232461.7:c.176T>C	ENSP00000232461.3:p.Leu59Pro
ENST00000433068.5:c.176T>C	ENSP00000387555.1:p.Leu59Pro
ENST00000440836.1:c.32T>C	ENSP00000403537.1:p.Leu11Pro
NM_000172.3:c.176T>C	NP_000163.2:p.Leu59Pro
NM_144499.2:c.176T>C	NP_653082.1:p.Leu59Pro
XM_011533595.1:c.32T>C	XP_011531897.1:p.Leu11Pro
XM_011533596.1:c.32T>C	XP_011531898.1:p.Leu11Pro
XR_940416.1:n.456T>C
NM_000172.4:c.176T>C	NP_000163.2:p.Leu59Pro
NM_144499.3:c.176T>C MANE Select	NP_653082.1:p.Leu59Pro