Canonical Allele Identifier: CA1017041519

Gene: SNTA1

Linked Data

• dbSNP Id: rs1990503392
• gnomAD v3: 20-33438742-C-T
• gnomAD v4: 20-33438742-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438742C>T , CM000682.2:g.33438742C>T	GRCh38
NC_000020.10:g.32026548C>T , CM000682.1:g.32026548C>T	GRCh37
NC_000020.9:g.31490209C>T	NCBI36
NG_011622.1:g.10151G>A , LRG_332:g.10151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.496+99G>A MANE Select	ENSP00000217381.2:n.496+99G>A
ENST00000217381.2:c.496+99G>A	ENSP00000217381.2:n.496+99G>A
NM_003098.2:c.496+99G>A , LRG_332t1:c.496+99G>A	NP_003089.1:n.496+99G>A
XM_005260517.1:c.496+99G>A	XP_005260574.1:n.496+99G>A
XM_011529007.1:c.496+99G>A	XP_011527309.1:n.496+99G>A
XM_011529008.1:c.496+99G>A	XP_011527310.1:n.496+99G>A
XR_936612.1:n.729+99G>A
XM_024451971.1:c.169+99G>A	XP_024307739.1:n.169+99G>A
NM_003098.3:c.496+99G>A MANE Select	NP_003089.1:n.496+99G>A