Canonical Allele Identifier: CA907936172

Gene: GNAT1

Linked Data

• dbSNP Id: rs1471281085
• gnomAD v3: 3-50193249-C-A
• gnomAD v4: 3-50193249-C-A
• MyVariant Identifiers: chr3:g.50230682C>A (hg19) ; chr3:g.50193249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193249C>A , CM000665.2:g.50193249C>A	GRCh38
NC_000003.11:g.50230682C>A , CM000665.1:g.50230682C>A	GRCh37
NC_000003.10:g.50205686C>A	NCBI36
NG_009831.1:g.6640C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.150-16C>A MANE Select	ENSP00000232461.3:n.150-16C>A
ENST00000232461.7:c.150-16C>A	ENSP00000232461.3:n.150-16C>A
ENST00000433068.5:c.150-16C>A	ENSP00000387555.1:n.150-16C>A
ENST00000440836.1:c.6-16C>A	ENSP00000403537.1:n.6-16C>A
NM_000172.3:c.150-16C>A	NP_000163.2:n.150-16C>A
NM_144499.2:c.150-16C>A	NP_653082.1:n.150-16C>A
XM_011533595.1:c.6-16C>A	XP_011531897.1:n.6-16C>A
XM_011533596.1:c.6-16C>A	XP_011531898.1:n.6-16C>A
XR_940416.1:n.430-16C>A
NM_000172.4:c.150-16C>A	NP_000163.2:n.150-16C>A
NM_144499.3:c.150-16C>A MANE Select	NP_653082.1:n.150-16C>A