Canonical Allele Identifier: CA2665814565
Gene: GNAT1 HGNC NCBI

Linked Data

gnomAD v4: 3-50193046-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193046C>A , CM000665.2:g.50193046C>A GRCh38
NC_000003.11:g.50230479C>A , CM000665.1:g.50230479C>A GRCh37
NC_000003.10:g.50205483C>A NCBI36
NG_009831.1:g.6437C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000232461.8:c.107-87C>A MANE Select ENSP00000232461.3:n.107-87C>A
ENST00000232461.7:c.107-87C>A ENSP00000232461.3:n.107-87C>A
ENST00000433068.5:c.107-87C>A ENSP00000387555.1:n.107-87C>A
ENST00000440836.1:c.-38-87C>A ENSP00000403537.1:n.-38-87C>A
ENST00000467787.1:n.287+62C>A
NM_000172.3:c.107-87C>A NP_000163.2:n.107-87C>A
NM_144499.2:c.107-87C>A NP_653082.1:n.107-87C>A
XM_011533595.1:c.-39+62C>A XP_011531897.1:n.-39+62C>A
XM_011533596.1:c.-39+62C>A XP_011531898.1:n.-39+62C>A
XR_940416.1:n.386+62C>A
NM_000172.4:c.107-87C>A NP_000163.2:n.107-87C>A
NM_144499.3:c.107-87C>A MANE Select NP_653082.1:n.107-87C>A