Canonical Allele Identifier: CA14683713

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12913436A>C , CM000681.2:g.12913436A>C GRCh38
NC_000019.9:g.13024250A>C , CM000681.1:g.13024250A>C GRCh37
NC_000019.8:g.12885250A>C NCBI36
NG_033049.1:g.10837T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293695.8:c.131+4786T>G (SYCE2) MANE Select ENSP00000293695.6:n.131+4786T>G
ENST00000293695.7:c.131+4786T>G (SYCE2) ENSP00000293695.6:n.131+4786T>G
ENST00000591050.1:c.211-559A>C (GCDH)
NM_001105578.1:c.131+4786T>G (SYCE2) NP_001099048.1:n.131+4786T>G
XM_005259848.3:c.131+4786T>G (SYCE2) XP_005259905.1:n.131+4786T>G
XM_011527882.1:c.131+4786T>G (SYCE2) XP_011526184.1:n.131+4786T>G
XM_011527883.1:c.131+4786T>G (SYCE2) XP_011526185.1:n.131+4786T>G
XM_011527899.1:c.1244-559A>C (GCDH) XP_011526201.1:n.1244-559A>C
XM_011527900.1:c.1329-559A>C (GCDH) XP_011526202.1:n.1329-559A>C
XM_005259848.4:c.131+4786T>G (SYCE2) XP_005259905.1:n.131+4786T>G
XM_011527882.2:c.131+4786T>G (SYCE2) XP_011526184.1:n.131+4786T>G
XM_011527883.2:c.131+4786T>G (SYCE2) XP_011526185.1:n.131+4786T>G
XM_011527899.2:c.1244-559A>C (GCDH) XP_011526201.1:n.1244-559A>C
XM_011527900.2:c.1329-559A>C (GCDH) XP_011526202.1:n.1329-559A>C
NM_001105578.2:c.131+4786T>G (SYCE2) MANE Select NP_001099048.1:n.131+4786T>G