Canonical Allele Identifier: CA9817266
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263476
dbSNP Id: rs572545726

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443400G>A , CM000682.2:g.33443400G>A GRCh38
NC_000020.10:g.32031206G>A , CM000682.1:g.32031206G>A GRCh37
NC_000020.9:g.31494867G>A NCBI36
NG_011622.1:g.5493C>T , LRG_332:g.5493C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.221C>T MANE Select ENSP00000217381.2:p.Pro74Leu
ENST00000217381.2:c.221C>T ENSP00000217381.2:p.Pro74Leu
NM_003098.2:c.221C>T , LRG_332t1:c.221C>T NP_003089.1:p.Pro74Leu
XM_005260517.1:c.221C>T XP_005260574.1:p.Pro74Leu
XM_011529007.1:c.221C>T XP_011527309.1:p.Pro74Leu
XM_011529008.1:c.221C>T XP_011527310.1:p.Pro74Leu
XR_936612.1:n.454C>T
NM_003098.3:c.221C>T MANE Select NP_003089.1:p.Pro74Leu