Canonical Allele Identifier: CA9817216

Gene: SNTA1

Linked Data

• dbSNP Id: rs781634702
• ExAC: 20:32026606 C / G
• gnomAD v3: 20-33438800-C-G
• gnomAD v4: 20-33438800-C-G
• MyVariant Identifiers: chr20:g.32026606C>G (hg19) ; chr20:g.33438800C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438800C>G , CM000682.2:g.33438800C>G	GRCh38
NC_000020.10:g.32026606C>G , CM000682.1:g.32026606C>G	GRCh37
NC_000020.9:g.31490267C>G	NCBI36
NG_011622.1:g.10093G>C , LRG_332:g.10093G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.496+41G>C MANE Select	ENSP00000217381.2:n.496+41G>C
ENST00000217381.2:c.496+41G>C	ENSP00000217381.2:n.496+41G>C
NM_003098.2:c.496+41G>C , LRG_332t1:c.496+41G>C	NP_003089.1:n.496+41G>C
XM_005260517.1:c.496+41G>C	XP_005260574.1:n.496+41G>C
XM_011529007.1:c.496+41G>C	XP_011527309.1:n.496+41G>C
XM_011529008.1:c.496+41G>C	XP_011527310.1:n.496+41G>C
XR_936612.1:n.729+41G>C
XM_024451971.1:c.169+41G>C	XP_024307739.1:n.169+41G>C
NM_003098.3:c.496+41G>C MANE Select	NP_003089.1:n.496+41G>C