Canonical Allele Identifier: CA542848924

Gene: GNAT1

Linked Data

• dbSNP Id: rs1342919406
• gnomAD v2: 3-50230491-T-C
• gnomAD v3: 3-50193058-T-C
• gnomAD v4: 3-50193058-T-C
• MyVariant Identifiers: chr3:g.50230491T>C (hg19) ; chr3:g.50193058T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193058T>C , CM000665.2:g.50193058T>C	GRCh38
NC_000003.11:g.50230491T>C , CM000665.1:g.50230491T>C	GRCh37
NC_000003.10:g.50205495T>C	NCBI36
NG_009831.1:g.6449T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000232461.8:c.107-75T>C MANE Select	ENSP00000232461.3:n.107-75T>C
ENST00000232461.7:c.107-75T>C	ENSP00000232461.3:n.107-75T>C
ENST00000433068.5:c.107-75T>C	ENSP00000387555.1:n.107-75T>C
ENST00000440836.1:c.-38-75T>C	ENSP00000403537.1:n.-38-75T>C
ENST00000467787.1:n.288-75T>C
NM_000172.3:c.107-75T>C	NP_000163.2:n.107-75T>C
NM_144499.2:c.107-75T>C	NP_653082.1:n.107-75T>C
XM_011533595.1:c.-38-75T>C	XP_011531897.1:n.-38-75T>C
XM_011533596.1:c.-38-75T>C	XP_011531898.1:n.-38-75T>C
XR_940416.1:n.387-75T>C
NM_000172.4:c.107-75T>C	NP_000163.2:n.107-75T>C
NM_144499.3:c.107-75T>C MANE Select	NP_653082.1:n.107-75T>C