Canonical Allele Identifier: CA352913530

Gene: GNAT1

Linked Data

• gnomAD v4: 3-50193347-C-G
• MyVariant Identifiers: chr3:g.50230780C>G (hg19) ; chr3:g.50193347C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193347C>G , CM000665.2:g.50193347C>G	GRCh38
NC_000003.11:g.50230780C>G , CM000665.1:g.50230780C>G	GRCh37
NC_000003.10:g.50205784C>G	NCBI36
NG_009831.1:g.6738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.232C>G MANE Select	ENSP00000232461.3:p.Leu78Val
ENST00000232461.7:c.232C>G	ENSP00000232461.3:p.Leu78Val
ENST00000433068.5:c.232C>G	ENSP00000387555.1:p.Leu78Val
ENST00000440836.1:c.88C>G	ENSP00000403537.1:p.Leu30Val
NM_000172.3:c.232C>G	NP_000163.2:p.Leu78Val
NM_144499.2:c.232C>G	NP_653082.1:p.Leu78Val
XM_011533595.1:c.88C>G	XP_011531897.1:p.Leu30Val
XM_011533596.1:c.88C>G	XP_011531898.1:p.Leu30Val
XR_940416.1:n.512C>G
NM_000172.4:c.232C>G	NP_000163.2:p.Leu78Val
NM_144499.3:c.232C>G MANE Select	NP_653082.1:p.Leu78Val