Canonical Allele Identifier: CA2412486
Gene: GNAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1015231
ClinVar RCV Id: RCV001314060
dbSNP Id: rs754189877
ExAC: 3:50230779 C / G
gnomAD v2: 3-50230779-C-G
gnomAD v3: 3-50193346-C-G
gnomAD v4: 3-50193346-C-G
MyVariant Identifiers: chr3:g.50230779C>G (hg19) chr3:g.50193346C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193346C>G , CM000665.2:g.50193346C>G GRCh38
NC_000003.11:g.50230779C>G , CM000665.1:g.50230779C>G GRCh37
NC_000003.10:g.50205783C>G NCBI36
NG_009831.1:g.6737C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.231C>G MANE Select ENSP00000232461.3:p.Ile77Met
ENST00000232461.7:c.231C>G ENSP00000232461.3:p.Ile77Met
ENST00000433068.5:c.231C>G ENSP00000387555.1:p.Ile77Met
ENST00000440836.1:c.87C>G ENSP00000403537.1:p.Ile29Met
NM_000172.3:c.231C>G NP_000163.2:p.Ile77Met
NM_144499.2:c.231C>G NP_653082.1:p.Ile77Met
XM_011533595.1:c.87C>G XP_011531897.1:p.Ile29Met
XM_011533596.1:c.87C>G XP_011531898.1:p.Ile29Met
XR_940416.1:n.511C>G
NM_000172.4:c.231C>G NP_000163.2:p.Ile77Met
NM_144499.3:c.231C>G MANE Select NP_653082.1:p.Ile77Met
Search 100 bp 5'
Search 100 bp 3'