Canonical Allele Identifier: CA696632990
Community Standard Title: NM_000231.3(SGCG):c.-1+5G>A
Gene: SGCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23181080G>A , CM000675.2:g.23181080G>A GRCh38
NC_000013.10:g.23755219G>A , CM000675.1:g.23755219G>A GRCh37
NC_000013.9:g.22653219G>A NCBI36
NG_008759.1:g.5160G>A , LRG_207:g.5160G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000231.3:c.-1+5G>A MANE Select NP_000222.2:n.-1+5G>A
ENST00000218867.4:c.-1+5G>A MANE Select ENSP00000218867.3:n.-1+5G>A
NM_000231.2:c.-1+5G>A , LRG_207t1:c.-1+5G>A NP_000222.1:n.-1+5G>A
NM_001378244.1:c.54+20434G>A NP_001365173.1:n.54+20434G>A
NM_001378245.1:c.-152+97G>A NP_001365174.1:n.-152+97G>A
NM_001378246.1:c.-152+5G>A NP_001365175.1:n.-152+5G>A
ENST00000218867.3:c.-1+5G>A ENSP00000218867.3:n.-1+5G>A
XM_005266505.2:c.-152+5G>A XP_005266562.1:n.-152+5G>A
XM_006719861.2:c.54+20434G>A XP_006719924.1:n.54+20434G>A
XM_006719861.3:c.54+20434G>A XP_006719924.1:n.54+20434G>A
XM_024449397.1:c.-152+97G>A XP_024305165.1:n.-152+97G>A