Canonical Allele Identifier: CA348233056
Community Standard Title: NM_006343.3(MERTK):c.1868T>A (p.Leu623Ter)
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112008383T>A , CM000664.2:g.112008383T>A GRCh38
NC_000002.11:g.112765960T>A , CM000664.1:g.112765960T>A GRCh37
NC_000002.10:g.112482431T>A NCBI36
NG_011607.1:g.114770T>A

Transcript Alleles

HGVS Amino-acid Change
NM_006343.3:c.1868T>A MANE Select NP_006334.2:p.Leu623Ter
ENST00000295408.9:c.1868T>A MANE Select ENSP00000295408.4:p.Leu623Ter
NM_006343.2:c.1868T>A NP_006334.2:p.Leu623Ter
ENST00000295408.8:c.1868T>A ENSP00000295408.4:p.Leu623Ter
ENST00000409780.5:c.1340T>A ENSP00000387277.1:p.Leu447Ter
ENST00000421804.6:c.1868T>A ENSP00000389152.2:p.Leu623Ter
ENST00000439966.5:c.*1341T>A ENSP00000402129.1:n.*1341T>A
ENST00000616902.4:c.833T>A ENSP00000482824.1:p.Leu278Ter
XM_005263565.3:c.1868T>A XP_005263622.1:p.Leu623Ter
XM_005263565.4:c.1868T>A XP_005263622.1:p.Leu623Ter
XM_005263568.3:c.1868T>A XP_005263625.1:p.Leu623Ter
XM_005263568.4:c.1868T>A XP_005263625.1:p.Leu623Ter
XM_011510490.1:c.1679T>A XP_011508792.1:p.Leu560Ter
XM_011510490.3:c.1679T>A XP_011508792.1:p.Leu560Ter
XM_011510491.1:c.653T>A XP_011508793.1:p.Leu218Ter
XM_017003164.1:c.1679T>A XP_016858653.1:p.Leu560Ter
XM_017003165.2:c.653T>A XP_016858654.1:p.Leu218Ter