Canonical Allele Identifier: CA350501134
Community Standard Title: NM_014140.4(SMARCAL1):c.1645-2A>T
Gene: SMARCAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216438418A>T , CM000664.2:g.216438418A>T GRCh38
NC_000002.11:g.217303141A>T , CM000664.1:g.217303141A>T GRCh37
NC_000002.10:g.217011386A>T NCBI36
NG_009771.1:g.31005A>T , LRG_108:g.31005A>T

Transcript Alleles

HGVS Amino-acid Change
NM_014140.4:c.1645-2A>T MANE Select NP_054859.2:n.1645-2A>T
ENST00000357276.9:c.1645-2A>T MANE Select ENSP00000349823.4:n.1645-2A>T
NM_001127207.1:c.1645-2A>T NP_001120679.1:n.1645-2A>T
NM_001127207.2:c.1645-2A>T NP_001120679.1:n.1645-2A>T
NM_014140.3:c.1645-2A>T , LRG_108t1:c.1645-2A>T NP_054859.2:n.1645-2A>T
ENST00000357276.8:c.1645-2A>T ENSP00000349823.4:n.1645-2A>T
ENST00000358207.9:c.1645-2A>T ENSP00000350940.5:n.1645-2A>T
ENST00000392128.6:c.1236+2922A>T ENSP00000375974.2:n.1236+2922A>T
ENST00000425815.6:c.1645-2A>T ENSP00000394410.2:n.1645-2A>T
ENST00000430374.6:c.1645-2A>T ENSP00000405077.2:n.1645-2A>T
ENST00000444508.6:c.1645-2A>T ENSP00000398969.2:n.1645-2A>T
ENST00000445153.1:c.318-2A>T
ENST00000697898.1:n.2006-2A>T
ENST00000697899.1:c.1411-2A>T ENSP00000513470.1:n.1411-2A>T
ENST00000697901.1:c.*503-2A>T ENSP00000513471.1:n.*503-2A>T
ENST00000697902.1:n.1877-2A>T
ENST00000697903.1:c.*132-2A>T ENSP00000513472.1:n.*132-2A>T
ENST00000697904.1:c.*132-2A>T ENSP00000513473.1:n.*132-2A>T
ENST00000697905.1:c.*132-2A>T ENSP00000513474.1:n.*132-2A>T
ENST00000697906.1:c.1411-2A>T ENSP00000513475.1:n.1411-2A>T
ENST00000697907.1:c.*503-2A>T ENSP00000513476.1:n.*503-2A>T
ENST00000697908.1:n.1442-2A>T
ENST00000697909.1:n.537-2A>T
XM_005246631.2:c.1645-2A>T XP_005246688.1:n.1645-2A>T
XM_005246632.1:c.1645-2A>T XP_005246689.1:n.1645-2A>T
XM_005246632.2:c.1645-2A>T XP_005246689.1:n.1645-2A>T
XM_006712557.1:c.1644+2922A>T XP_006712620.1:n.1644+2922A>T
XM_017004228.2:c.733-2A>T XP_016859717.1:n.733-2A>T