Canonical Allele Identifier: CA408634752

Gene: SNTA1

Linked Data

• gnomAD v4: 20-33443581-C-G
• MyVariant Identifiers: chr20:g.32031387C>G (hg19) ; chr20:g.33443581C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33443581C>G , CM000682.2:g.33443581C>G	GRCh38
NC_000020.10:g.32031387C>G , CM000682.1:g.32031387C>G	GRCh37
NC_000020.9:g.31495048C>G	NCBI36
NG_011622.1:g.5312G>C , LRG_332:g.5312G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.40G>C MANE Select	ENSP00000217381.2:p.Glu14Gln
ENST00000217381.2:c.40G>C	ENSP00000217381.2:p.Glu14Gln
NM_003098.2:c.40G>C , LRG_332t1:c.40G>C	NP_003089.1:p.Glu14Gln
XM_005260517.1:c.40G>C	XP_005260574.1:p.Glu14Gln
XM_011529007.1:c.40G>C	XP_011527309.1:p.Glu14Gln
XM_011529008.1:c.40G>C	XP_011527310.1:p.Glu14Gln
XR_936612.1:n.273G>C
NM_003098.3:c.40G>C MANE Select	NP_003089.1:p.Glu14Gln