Canonical Allele Identifier: CA352912692

Gene: GNAT1

Linked Data

• gnomAD v4: 3-50193286-C-A
• MyVariant Identifiers: chr3:g.50230719C>A (hg19) ; chr3:g.50193286C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193286C>A , CM000665.2:g.50193286C>A	GRCh38
NC_000003.11:g.50230719C>A , CM000665.1:g.50230719C>A	GRCh37
NC_000003.10:g.50205723C>A	NCBI36
NG_009831.1:g.6677C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.171C>A MANE Select	ENSP00000232461.3:p.Tyr57Ter
ENST00000232461.7:c.171C>A	ENSP00000232461.3:p.Tyr57Ter
ENST00000433068.5:c.171C>A	ENSP00000387555.1:p.Tyr57Ter
ENST00000440836.1:c.27C>A	ENSP00000403537.1:p.Tyr9Ter
NM_000172.3:c.171C>A	NP_000163.2:p.Tyr57Ter
NM_144499.2:c.171C>A	NP_653082.1:p.Tyr57Ter
XM_011533595.1:c.27C>A	XP_011531897.1:p.Tyr9Ter
XM_011533596.1:c.27C>A	XP_011531898.1:p.Tyr9Ter
XR_940416.1:n.451C>A
NM_000172.4:c.171C>A	NP_000163.2:p.Tyr57Ter
NM_144499.3:c.171C>A MANE Select	NP_653082.1:p.Tyr57Ter