Canonical Allele Identifier: CA12007549
Community Standard Title: NM_003135.3(SRP19):c.41+523T>G
Gene: SRP19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112861940T>G , CM000667.2:g.112861940T>G GRCh38
NC_000005.9:g.112197637T>G , CM000667.1:g.112197637T>G GRCh37
NC_000005.8:g.112225536T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003135.3:c.41+523T>G MANE Select NP_003126.1:n.41+523T>G
ENST00000505459.6:c.41+523T>G MANE Select ENSP00000424870.1:n.41+523T>G
NM_001204193.1:c.41+523T>G NP_001191122.1:n.41+523T>G
NM_001204193.2:c.41+523T>G NP_001191122.1:n.41+523T>G
NM_001204194.1:c.41+523T>G NP_001191123.1:n.41+523T>G
NM_001204194.2:c.41+523T>G NP_001191123.1:n.41+523T>G
NM_001204196.1:c.41+523T>G NP_001191125.1:n.41+523T>G
NM_001204196.2:c.41+523T>G NP_001191125.1:n.41+523T>G
NM_001204199.1:c.41+523T>G NP_001191128.1:n.41+523T>G
NM_001204199.2:c.41+523T>G NP_001191128.1:n.41+523T>G
NM_003135.2:c.41+523T>G NP_003126.1:n.41+523T>G
ENST00000282999.7:c.41+523T>G ENSP00000282999.3:n.41+523T>G
ENST00000391338.3:c.41+523T>G ENSP00000375133.2:n.41+523T>G
ENST00000445150.3:c.41+523T>G ENSP00000480521.1:n.41+523T>G
ENST00000503445.5:n.230+523T>G
ENST00000505459.5:c.41+523T>G ENSP00000424870.1:n.41+523T>G
ENST00000506997.1:c.41+523T>G ENSP00000424153.1:n.41+523T>G
ENST00000506997.2:c.41+523T>G ENSP00000424153.1:n.41+523T>G
ENST00000512790.5:n.113+523T>G
ENST00000515463.1:c.41+523T>G ENSP00000425562.1:n.41+523T>G
ENST00000515755.1:n.92+523T>G
ENST00000520401.1:c.256-568T>G
ENST00000621420.5:c.41+523T>G ENSP00000482018.1:n.41+523T>G