Canonical Allele Identifier: CA2665814558
Gene: GNAT1 HGNC NCBI

Linked Data

gnomAD v4: 3-50193045-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193045C>G , CM000665.2:g.50193045C>G GRCh38
NC_000003.11:g.50230478C>G , CM000665.1:g.50230478C>G GRCh37
NC_000003.10:g.50205482C>G NCBI36
NG_009831.1:g.6436C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000232461.8:c.107-88C>G MANE Select ENSP00000232461.3:n.107-88C>G
ENST00000232461.7:c.107-88C>G ENSP00000232461.3:n.107-88C>G
ENST00000433068.5:c.107-88C>G ENSP00000387555.1:n.107-88C>G
ENST00000440836.1:c.-38-88C>G ENSP00000403537.1:n.-38-88C>G
ENST00000467787.1:n.287+61C>G
NM_000172.3:c.107-88C>G NP_000163.2:n.107-88C>G
NM_144499.2:c.107-88C>G NP_653082.1:n.107-88C>G
XM_011533595.1:c.-39+61C>G XP_011531897.1:n.-39+61C>G
XM_011533596.1:c.-39+61C>G XP_011531898.1:n.-39+61C>G
XR_940416.1:n.386+61C>G
NM_000172.4:c.107-88C>G NP_000163.2:n.107-88C>G
NM_144499.3:c.107-88C>G MANE Select NP_653082.1:n.107-88C>G