Canonical Allele Identifier: CA408633932

Gene: SNTA1

Linked Data

• gnomAD v4: 20-33443337-G-A
• MyVariant Identifiers: chr20:g.32031143G>A (hg19) ; chr20:g.33443337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33443337G>A , CM000682.2:g.33443337G>A	GRCh38
NC_000020.10:g.32031143G>A , CM000682.1:g.32031143G>A	GRCh37
NC_000020.9:g.31494804G>A	NCBI36
NG_011622.1:g.5556C>T , LRG_332:g.5556C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217381.3:c.284C>T MANE Select	ENSP00000217381.2:p.Ala95Val
ENST00000217381.2:c.284C>T	ENSP00000217381.2:p.Ala95Val
NM_003098.2:c.284C>T , LRG_332t1:c.284C>T	NP_003089.1:p.Ala95Val
XM_005260517.1:c.284C>T	XP_005260574.1:p.Ala95Val
XM_011529007.1:c.284C>T	XP_011527309.1:p.Ala95Val
XM_011529008.1:c.284C>T	XP_011527310.1:p.Ala95Val
XR_936612.1:n.517C>T
NM_003098.3:c.284C>T MANE Select	NP_003089.1:p.Ala95Val