Canonical Allele Identifier: CA1831793
Community Standard Title: NM_006343.3(MERTK):c.2305A>G (p.Ile769Val)
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112021537A>G , CM000664.2:g.112021537A>G GRCh38
NC_000002.11:g.112779114A>G , CM000664.1:g.112779114A>G GRCh37
NC_000002.10:g.112495585A>G NCBI36
NG_011607.1:g.127924A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006343.3:c.2305A>G MANE Select NP_006334.2:p.Ile769Val
ENST00000295408.9:c.2305A>G MANE Select ENSP00000295408.4:p.Ile769Val
NM_006343.2:c.2305A>G NP_006334.2:p.Ile769Val
ENST00000295408.8:c.2305A>G ENSP00000295408.4:p.Ile769Val
ENST00000409780.5:c.1777A>G ENSP00000387277.1:p.Ile593Val
ENST00000421804.6:c.2305A>G ENSP00000389152.2:p.Ile769Val
ENST00000439966.5:c.*1778A>G ENSP00000402129.1:n.*1778A>G
ENST00000449344.2:c.277A>G ENSP00000412660.2:p.Ile93Val
ENST00000616902.4:c.1261A>G ENSP00000482824.1:p.Ile421Val
XM_005263565.3:c.2305A>G XP_005263622.1:p.Ile769Val
XM_005263565.4:c.2305A>G XP_005263622.1:p.Ile769Val
XM_011510490.1:c.2116A>G XP_011508792.1:p.Ile706Val
XM_011510490.3:c.2116A>G XP_011508792.1:p.Ile706Val
XM_011510491.1:c.1090A>G XP_011508793.1:p.Ile364Val
XM_017003164.1:c.2116A>G XP_016858653.1:p.Ile706Val
XM_017003165.2:c.1090A>G XP_016858654.1:p.Ile364Val