Canonical Allele Identifier: CA1047807749

Gene: GNAT1

Linked Data

• dbSNP Id: rs1699436847
• gnomAD v3: 3-50193040-C-T
• gnomAD v4: 3-50193040-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193040C>T , CM000665.2:g.50193040C>T	GRCh38
NC_000003.11:g.50230473C>T , CM000665.1:g.50230473C>T	GRCh37
NC_000003.10:g.50205477C>T	NCBI36
NG_009831.1:g.6431C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000232461.8:c.107-93C>T MANE Select	ENSP00000232461.3:n.107-93C>T
ENST00000232461.7:c.107-93C>T	ENSP00000232461.3:n.107-93C>T
ENST00000433068.5:c.107-93C>T	ENSP00000387555.1:n.107-93C>T
ENST00000440836.1:c.-38-93C>T	ENSP00000403537.1:n.-38-93C>T
ENST00000467787.1:n.287+56C>T
NM_000172.3:c.107-93C>T	NP_000163.2:n.107-93C>T
NM_144499.2:c.107-93C>T	NP_653082.1:n.107-93C>T
XM_011533595.1:c.-39+56C>T	XP_011531897.1:n.-39+56C>T
XM_011533596.1:c.-39+56C>T	XP_011531898.1:n.-39+56C>T
XR_940416.1:n.386+56C>T
NM_000172.4:c.107-93C>T	NP_000163.2:n.107-93C>T
NM_144499.3:c.107-93C>T MANE Select	NP_653082.1:n.107-93C>T