Canonical Allele Identifier: CA7153481
Community Standard Title: NM_003136.4(SRP54):c.78+12A>G
Gene: SRP54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.34996799A>G , CM000676.2:g.34996799A>G GRCh38
NC_000014.8:g.35466005A>G , CM000676.1:g.35466005A>G GRCh37
NC_000014.7:g.34535756A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003136.4:c.78+12A>G MANE Select NP_003127.1:n.78+12A>G
ENST00000216774.11:c.78+12A>G MANE Select ENSP00000216774.6:n.78+12A>G
NM_001146282.1:c.23+12A>G NP_001139754.1:n.23+12A>G
NM_001146282.2:c.23+12A>G NP_001139754.1:n.23+12A>G
NM_003136.3:c.78+12A>G NP_003127.1:n.78+12A>G
ENST00000216774.10:c.78+12A>G ENSP00000216774.6:n.78+12A>G
ENST00000546080.5:c.23+12A>G ENSP00000440629.1:n.23+12A>G
ENST00000546080.6:c.78+12A>G ENSP00000440629.2:n.78+12A>G
ENST00000553544.1:n.366A>G
ENST00000553923.2:n.356+12A>G
ENST00000554803.5:c.78+12A>G ENSP00000451037.1:n.78+12A>G
ENST00000555317.5:n.335+12A>G
ENST00000555535.1:n.310+12A>G
ENST00000555557.5:c.-23+12A>G ENSP00000451775.1:n.-23+12A>G
ENST00000555746.5:c.78+12A>G ENSP00000451647.1:n.78+12A>G
ENST00000555746.6:c.78+12A>G ENSP00000451647.2:n.78+12A>G
ENST00000556380.3:c.78+12A>G ENSP00000451313.1:n.78+12A>G
ENST00000556994.5:c.78+12A>G ENSP00000451818.1:n.78+12A>G
ENST00000630962.1:c.78+12A>G ENSP00000486764.1:n.78+12A>G
ENST00000677561.1:n.364+12A>G
ENST00000677621.1:n.356+12A>G
ENST00000677647.1:c.78+12A>G ENSP00000504673.1:n.78+12A>G
ENST00000678274.1:c.78+12A>G ENSP00000504600.1:n.78+12A>G
ENST00000678477.1:c.78+12A>G ENSP00000504671.1:n.78+12A>G
ENST00000678519.1:c.78+12A>G ENSP00000504376.1:n.78+12A>G
ENST00000678627.1:c.78+12A>G ENSP00000504550.1:n.78+12A>G
ENST00000678836.1:c.78+12A>G ENSP00000504412.1:n.78+12A>G
ENST00000678963.1:c.78+12A>G ENSP00000504518.1:n.78+12A>G
ENST00000679045.1:n.356+12A>G
XM_005268024.1:c.78+12A>G XP_005268081.1:n.78+12A>G
XM_005268024.3:c.78+12A>G XP_005268081.1:n.78+12A>G
XM_011537106.1:c.78+12A>G XP_011535408.1:n.78+12A>G
XM_017021615.2:c.-150+12A>G XP_016877104.1:n.-150+12A>G