Canonical Allele Identifier: CA672883042
Gene: SIAE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124668099T>A , CM000673.2:g.124668099T>A GRCh38
NC_000011.9:g.124537995T>A , CM000673.1:g.124537995T>A GRCh37
NC_000011.8:g.124043205T>A NCBI36
NG_028132.1:g.13205A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263593.8:c.229+1261A>T MANE Select ENSP00000263593.3:n.229+1261A>T
ENST00000263593.7:c.229+1261A>T ENSP00000263593.3:n.229+1261A>T
ENST00000436137.2:n.342+1261A>T
ENST00000533613.1:n.253+1261A>T
ENST00000545756.5:c.124+1261A>T ENSP00000437877.1:n.124+1261A>T
ENST00000618733.4:c.124+1261A>T ENSP00000478211.1:n.124+1261A>T
NM_001199922.1:c.124+1261A>T NP_001186851.1:n.124+1261A>T
NM_170601.4:c.229+1261A>T NP_733746.1:n.229+1261A>T
XM_005271592.3:c.229+1261A>T XP_005271649.1:n.229+1261A>T
XM_017017930.1:c.-3024+1261A>T XP_016873419.1:n.-3024+1261A>T
NM_170601.5:c.229+1261A>T MANE Select NP_733746.1:n.229+1261A>T
NM_001199922.2:c.124+1261A>T NP_001186851.1:n.124+1261A>T