Canonical Allele Identifier: CA1017041449

Gene: SNTA1

Linked Data

• dbSNP Id: rs1990499456
• gnomAD v3: 20-33438591-T-C
• gnomAD v4: 20-33438591-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438591T>C , CM000682.2:g.33438591T>C	GRCh38
NC_000020.10:g.32026397T>C , CM000682.1:g.32026397T>C	GRCh37
NC_000020.9:g.31490058T>C	NCBI36
NG_011622.1:g.10302A>G , LRG_332:g.10302A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.496+250A>G MANE Select	ENSP00000217381.2:n.496+250A>G
ENST00000217381.2:c.496+250A>G	ENSP00000217381.2:n.496+250A>G
NM_003098.2:c.496+250A>G , LRG_332t1:c.496+250A>G	NP_003089.1:n.496+250A>G
XM_005260517.1:c.496+250A>G	XP_005260574.1:n.496+250A>G
XM_011529007.1:c.496+250A>G	XP_011527309.1:n.496+250A>G
XM_011529008.1:c.496+250A>G	XP_011527310.1:n.496+250A>G
XR_936612.1:n.729+250A>G
XM_024451971.1:c.169+250A>G	XP_024307739.1:n.169+250A>G
NM_003098.3:c.496+250A>G MANE Select	NP_003089.1:n.496+250A>G