Canonical Allele Identifier: CA352911975

Gene: GNAT1

Linked Data

• gnomAD v4: 3-50193150-A-T
• MyVariant Identifiers: chr3:g.50230583A>T (hg19) ; chr3:g.50193150A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193150A>T , CM000665.2:g.50193150A>T	GRCh38
NC_000003.11:g.50230583A>T , CM000665.1:g.50230583A>T	GRCh37
NC_000003.10:g.50205587A>T	NCBI36
NG_009831.1:g.6541A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000232461.8:c.124A>T MANE Select	ENSP00000232461.3:p.Lys42Ter
ENST00000232461.7:c.124A>T	ENSP00000232461.3:p.Lys42Ter
ENST00000433068.5:c.124A>T	ENSP00000387555.1:p.Lys42Ter
ENST00000440836.1:c.-21A>T	ENSP00000403537.1:n.-21A>T
ENST00000467787.1:n.305A>T
NM_000172.3:c.124A>T	NP_000163.2:p.Lys42Ter
NM_144499.2:c.124A>T	NP_653082.1:p.Lys42Ter
XM_011533595.1:c.-21A>T	XP_011531897.1:n.-21A>T
XM_011533596.1:c.-21A>T	XP_011531898.1:n.-21A>T
XR_940416.1:n.404A>T
NM_000172.4:c.124A>T	NP_000163.2:p.Lys42Ter
NM_144499.3:c.124A>T MANE Select	NP_653082.1:p.Lys42Ter