Canonical Allele Identifier: CA33797228

Gene: STX6

Linked Data

• dbSNP Id: rs1411478
• gnomAD v2: 1-180962282-A-G
• gnomAD v3: 1-180993146-A-G
• gnomAD v4: 1-180993146-A-G
• MyVariant Identifiers: chr1:g.180962282A>G (hg19) ; chr1:g.180993146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180993146A>G , CM000663.2:g.180993146A>G	GRCh38
NC_000001.10:g.180962282A>G , CM000663.1:g.180962282A>G	GRCh37
NC_000001.9:g.179228905A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258301.6:c.363+217T>C MANE Select	ENSP00000258301.5:n.363+217T>C
ENST00000258301.5:c.363+217T>C	ENSP00000258301.5:n.363+217T>C
ENST00000542060.5:c.60+217T>C	ENSP00000440188.1:n.60+217T>C
NM_001286210.1:c.60+217T>C	NP_001273139.1:n.60+217T>C
NM_005819.5:c.363+217T>C	NP_005810.1:n.363+217T>C
XM_011509058.1:c.363+217T>C	XP_011507360.1:n.363+217T>C
XM_011509059.1:c.60+217T>C	XP_011507361.1:n.60+217T>C
XM_017000007.1:c.60+217T>C	XP_016855496.1:n.60+217T>C
NM_005819.6:c.363+217T>C MANE Select	NP_005810.1:n.363+217T>C
NM_001286210.2:c.60+217T>C	NP_001273139.1:n.60+217T>C