Canonical Allele Identifier: CA9817001
Community Standard Title: NM_003098.3(SNTA1):c.1238-14T>C
Gene: SNTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33408902A>G , CM000682.2:g.33408902A>G GRCh38
NC_000020.10:g.31996708A>G , CM000682.1:g.31996708A>G GRCh37
NC_000020.9:g.31460369A>G NCBI36
NG_011622.1:g.39991T>C , LRG_332:g.39991T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003098.3:c.1238-14T>C MANE Select NP_003089.1:n.1238-14T>C
ENST00000217381.3:c.1238-14T>C MANE Select ENSP00000217381.2:n.1238-14T>C
NM_003098.2:c.1238-14T>C , LRG_332t1:c.1238-14T>C NP_003089.1:n.1238-14T>C
ENST00000217381.2:c.1238-14T>C ENSP00000217381.2:n.1238-14T>C
XM_005260517.1:c.1238-14T>C XP_005260574.1:n.1238-14T>C
XM_011529007.1:c.1270-14T>C XP_011527309.1:n.1270-14T>C
XM_011529008.1:c.1270-14T>C XP_011527310.1:n.1270-14T>C
XM_024451971.1:c.911-14T>C XP_024307739.1:n.911-14T>C
XR_936612.1:n.1274-14T>C