Canonical Allele Identifier: CA293635

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 139222
• ClinVar RCV Id: RCV000195833 ; RCV000247178 ; RCV000404723 ; RCV000128176 ; RCV001094718
• dbSNP Id: rs138863915
• ExAC: 20:32000158 G / A
• gnomAD v2: 20-32000158-G-A
• gnomAD v3: 20-33412352-G-A
• gnomAD v4: 20-33412352-G-A
• MyVariant Identifiers: chr20:g.32000158G>A (hg19) ; chr20:g.33412352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33412352G>A , CM000682.2:g.33412352G>A	GRCh38
NC_000020.10:g.32000158G>A , CM000682.1:g.32000158G>A	GRCh37
NC_000020.9:g.31463819G>A	NCBI36
NG_011622.1:g.36541C>T , LRG_332:g.36541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.984C>T MANE Select	ENSP00000217381.2:p.Pro328=
ENST00000217381.2:c.984C>T	ENSP00000217381.2:p.Pro328=
NM_003098.2:c.984C>T , LRG_332t1:c.984C>T	NP_003089.1:p.Pro328=
XM_005260517.1:c.984C>T	XP_005260574.1:p.Pro328=
XM_011529007.1:c.984C>T	XP_011527309.1:p.Pro328=
XM_011529008.1:c.984C>T	XP_011527310.1:p.Pro328=
XR_936612.1:n.1217C>T
XM_024451971.1:c.657C>T	XP_024307739.1:p.Pro219=
NM_003098.3:c.984C>T MANE Select	NP_003089.1:p.Pro328=