Canonical Allele Identifier: CA2756206786
Gene: GNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193442A>G , CM000665.2:g.50193442A>G GRCh38
NC_000003.11:g.50230875A>G , CM000665.1:g.50230875A>G GRCh37
NC_000003.10:g.50205879A>G NCBI36
NG_009831.1:g.6833A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.291+36A>G MANE Select ENSP00000232461.3:n.291+36A>G
ENST00000232461.7:c.291+36A>G ENSP00000232461.3:n.291+36A>G
ENST00000433068.5:c.291+36A>G ENSP00000387555.1:n.291+36A>G
ENST00000440836.1:c.147+36A>G ENSP00000403537.1:n.147+36A>G
NM_000172.3:c.291+36A>G NP_000163.2:n.291+36A>G
NM_144499.2:c.291+36A>G NP_653082.1:n.291+36A>G
XM_011533595.1:c.147+36A>G XP_011531897.1:n.147+36A>G
XM_011533596.1:c.147+36A>G XP_011531898.1:n.147+36A>G
XR_940416.1:n.571+36A>G
NM_000172.4:c.291+36A>G NP_000163.2:n.291+36A>G
NM_144499.3:c.291+36A>G MANE Select NP_653082.1:n.291+36A>G