Canonical Allele Identifier: CA543052624

Gene: GNAT1

Linked Data

• dbSNP Id: rs773731629
• gnomAD v2: 3-50230845-C-T
• gnomAD v4: 3-50193412-C-T
• MyVariant Identifiers: chr3:g.50230845C>T (hg19) ; chr3:g.50193412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193412C>T , CM000665.2:g.50193412C>T	GRCh38
NC_000003.11:g.50230845C>T , CM000665.1:g.50230845C>T	GRCh37
NC_000003.10:g.50205849C>T	NCBI36
NG_009831.1:g.6803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.291+6C>T MANE Select	ENSP00000232461.3:n.291+6C>T
ENST00000232461.7:c.291+6C>T	ENSP00000232461.3:n.291+6C>T
ENST00000433068.5:c.291+6C>T	ENSP00000387555.1:n.291+6C>T
ENST00000440836.1:c.147+6C>T	ENSP00000403537.1:n.147+6C>T
NM_000172.3:c.291+6C>T	NP_000163.2:n.291+6C>T
NM_144499.2:c.291+6C>T	NP_653082.1:n.291+6C>T
XM_011533595.1:c.147+6C>T	XP_011531897.1:n.147+6C>T
XM_011533596.1:c.147+6C>T	XP_011531898.1:n.147+6C>T
XR_940416.1:n.571+6C>T
NM_000172.4:c.291+6C>T	NP_000163.2:n.291+6C>T
NM_144499.3:c.291+6C>T MANE Select	NP_653082.1:n.291+6C>T