Canonical Allele Identifier: CA2412490

Gene: GNAT1

Linked Data

• dbSNP Id: rs201849628
• ExAC: 3:50230789 G / C
• gnomAD v2: 3-50230789-G-C
• gnomAD v4: 3-50193356-G-C
• MyVariant Identifiers: chr3:g.50230789G>C (hg19) ; chr3:g.50193356G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193356G>C , CM000665.2:g.50193356G>C	GRCh38
NC_000003.11:g.50230789G>C , CM000665.1:g.50230789G>C	GRCh37
NC_000003.10:g.50205793G>C	NCBI36
NG_009831.1:g.6747G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.241G>C MANE Select	ENSP00000232461.3:p.Val81Leu
ENST00000232461.7:c.241G>C	ENSP00000232461.3:p.Val81Leu
ENST00000433068.5:c.241G>C	ENSP00000387555.1:p.Val81Leu
ENST00000440836.1:c.97G>C	ENSP00000403537.1:p.Val33Leu
NM_000172.3:c.241G>C	NP_000163.2:p.Val81Leu
NM_144499.2:c.241G>C	NP_653082.1:p.Val81Leu
XM_011533595.1:c.97G>C	XP_011531897.1:p.Val33Leu
XM_011533596.1:c.97G>C	XP_011531898.1:p.Val33Leu
XR_940416.1:n.521G>C
NM_000172.4:c.241G>C	NP_000163.2:p.Val81Leu
NM_144499.3:c.241G>C MANE Select	NP_653082.1:p.Val81Leu