Canonical Allele Identifier: CA2665814570
Gene: GNAT1 HGNC NCBI

Linked Data

gnomAD v4: 3-50193047-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193047A>C , CM000665.2:g.50193047A>C GRCh38
NC_000003.11:g.50230480A>C , CM000665.1:g.50230480A>C GRCh37
NC_000003.10:g.50205484A>C NCBI36
NG_009831.1:g.6438A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000232461.8:c.107-86A>C MANE Select ENSP00000232461.3:n.107-86A>C
ENST00000232461.7:c.107-86A>C ENSP00000232461.3:n.107-86A>C
ENST00000433068.5:c.107-86A>C ENSP00000387555.1:n.107-86A>C
ENST00000440836.1:c.-38-86A>C ENSP00000403537.1:n.-38-86A>C
ENST00000467787.1:n.287+63A>C
NM_000172.3:c.107-86A>C NP_000163.2:n.107-86A>C
NM_144499.2:c.107-86A>C NP_653082.1:n.107-86A>C
XM_011533595.1:c.-39+63A>C XP_011531897.1:n.-39+63A>C
XM_011533596.1:c.-39+63A>C XP_011531898.1:n.-39+63A>C
XR_940416.1:n.386+63A>C
NM_000172.4:c.107-86A>C NP_000163.2:n.107-86A>C
NM_144499.3:c.107-86A>C MANE Select NP_653082.1:n.107-86A>C