Canonical Allele Identifier: CA2097954
Community Standard Title: NM_014140.4(SMARCAL1):c.1645-19T>A
Gene: SMARCAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216438401T>A , CM000664.2:g.216438401T>A GRCh38
NC_000002.11:g.217303124T>A , CM000664.1:g.217303124T>A GRCh37
NC_000002.10:g.217011369T>A NCBI36
NG_009771.1:g.30988T>A , LRG_108:g.30988T>A

Transcript Alleles

HGVS Amino-acid Change
NM_014140.4:c.1645-19T>A MANE Select NP_054859.2:n.1645-19T>A
ENST00000357276.9:c.1645-19T>A MANE Select ENSP00000349823.4:n.1645-19T>A
NM_001127207.1:c.1645-19T>A NP_001120679.1:n.1645-19T>A
NM_001127207.2:c.1645-19T>A NP_001120679.1:n.1645-19T>A
NM_014140.3:c.1645-19T>A , LRG_108t1:c.1645-19T>A NP_054859.2:n.1645-19T>A
ENST00000357276.8:c.1645-19T>A ENSP00000349823.4:n.1645-19T>A
ENST00000358207.9:c.1645-19T>A ENSP00000350940.5:n.1645-19T>A
ENST00000392128.6:c.1236+2905T>A ENSP00000375974.2:n.1236+2905T>A
ENST00000425815.6:c.1645-19T>A ENSP00000394410.2:n.1645-19T>A
ENST00000430374.6:c.1645-19T>A ENSP00000405077.2:n.1645-19T>A
ENST00000444508.6:c.1645-19T>A ENSP00000398969.2:n.1645-19T>A
ENST00000445153.1:c.318-19T>A
ENST00000697898.1:n.2006-19T>A
ENST00000697899.1:c.1411-19T>A ENSP00000513470.1:n.1411-19T>A
ENST00000697901.1:c.*503-19T>A ENSP00000513471.1:n.*503-19T>A
ENST00000697902.1:n.1877-19T>A
ENST00000697903.1:c.*132-19T>A ENSP00000513472.1:n.*132-19T>A
ENST00000697904.1:c.*132-19T>A ENSP00000513473.1:n.*132-19T>A
ENST00000697905.1:c.*132-19T>A ENSP00000513474.1:n.*132-19T>A
ENST00000697906.1:c.1411-19T>A ENSP00000513475.1:n.1411-19T>A
ENST00000697907.1:c.*503-19T>A ENSP00000513476.1:n.*503-19T>A
ENST00000697908.1:n.1442-19T>A
ENST00000697909.1:n.537-19T>A
XM_005246631.2:c.1645-19T>A XP_005246688.1:n.1645-19T>A
XM_005246632.1:c.1645-19T>A XP_005246689.1:n.1645-19T>A
XM_005246632.2:c.1645-19T>A XP_005246689.1:n.1645-19T>A
XM_006712557.1:c.1644+2905T>A XP_006712620.1:n.1644+2905T>A
XM_017004228.2:c.733-19T>A XP_016859717.1:n.733-19T>A