Canonical Allele Identifier: CA272748684
Community Standard Title: NM_022369.4(STRA6):c.1300+262A>G
Gene: STRA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74183594T>C , CM000677.2:g.74183594T>C GRCh38
NC_000015.9:g.74475935T>C , CM000677.1:g.74475935T>C GRCh37
NC_000015.8:g.72262988T>C NCBI36
NG_009207.1:g.30437A>G

Transcript Alleles

HGVS Amino-acid Change
NM_022369.4:c.1300+262A>G MANE Select NP_071764.3:n.1300+262A>G
ENST00000395105.9:c.1300+262A>G MANE Select ENSP00000378537.4:n.1300+262A>G
NM_001142617.1:c.1300+262A>G NP_001136089.1:n.1300+262A>G
NM_001142617.2:c.1300+262A>G NP_001136089.1:n.1300+262A>G
NM_001142618.1:c.1300+262A>G NP_001136090.1:n.1300+262A>G
NM_001142618.2:c.1300+262A>G NP_001136090.1:n.1300+262A>G
NM_001142619.1:c.1273+262A>G NP_001136091.1:n.1273+262A>G
NM_001142619.2:c.1273+262A>G NP_001136091.1:n.1273+262A>G
NM_001199040.1:c.1411+262A>G NP_001185969.1:n.1411+262A>G
NM_001199040.2:c.1411+262A>G NP_001185969.1:n.1411+262A>G
NM_001199041.1:c.1345+262A>G NP_001185970.1:n.1345+262A>G
NM_001199041.2:c.1345+262A>G NP_001185970.1:n.1345+262A>G
NM_001199042.1:c.1417+262A>G NP_001185971.1:n.1417+262A>G
NM_001199042.2:c.1417+262A>G NP_001185971.1:n.1417+262A>G
NM_022369.3:c.1300+262A>G NP_071764.3:n.1300+262A>G
ENST00000323940.9:c.1300+262A>G ENSP00000326085.5:n.1300+262A>G
ENST00000395105.8:c.1300+262A>G ENSP00000378537.4:n.1300+262A>G
ENST00000416286.7:c.1276+262A>G ENSP00000400403.3:n.1276+262A>G
ENST00000423167.6:c.1273+262A>G ENSP00000413012.2:n.1273+262A>G
ENST00000449139.6:c.1300+262A>G ENSP00000410221.2:n.1300+262A>G
ENST00000535552.5:c.1411+262A>G ENSP00000440238.1:n.1411+262A>G
ENST00000545137.5:n.1009+262A>G
ENST00000563965.5:c.1417+262A>G ENSP00000456609.1:n.1417+262A>G
ENST00000569936.5:c.*258A>G ENSP00000461799.1:n.*258A>G
ENST00000572785.1:c.196-1134A>G
ENST00000574278.5:c.1345+262A>G ENSP00000458827.1:n.1345+262A>G
ENST00000574439.5:n.1572+262A>G
ENST00000616000.4:c.1300+262A>G ENSP00000479112.1:n.1300+262A>G
XM_011521883.1:c.1300+262A>G XP_011520185.1:n.1300+262A>G
XM_011521884.1:c.1111+262A>G XP_011520186.1:n.1111+262A>G
XM_017022478.1:c.1348+262A>G XP_016877967.1:n.1348+262A>G
XM_017022479.1:c.1300+262A>G XP_016877968.1:n.1300+262A>G
XM_017022480.1:c.1111+262A>G XP_016877969.1:n.1111+262A>G
XR_931877.1:n.1423+262A>G
XR_931877.2:n.1423+262A>G