Canonical Allele Identifier: CA1831728
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112019498G>A , CM000664.2:g.112019498G>A GRCh38
NC_000002.11:g.112777075G>A , CM000664.1:g.112777075G>A GRCh37
NC_000002.10:g.112493546G>A NCBI36
NG_011607.1:g.125885G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.2165G>A MANE Select ENSP00000295408.4:p.Arg722Gln
ENST00000295408.8:c.2165G>A ENSP00000295408.4:p.Arg722Gln
ENST00000409780.5:c.1637G>A ENSP00000387277.1:p.Arg546Gln
ENST00000421804.6:c.2165G>A ENSP00000389152.2:p.Arg722Gln
ENST00000439966.5:c.*1638G>A ENSP00000402129.1:n.*1638G>A
ENST00000449344.2:c.86G>A ENSP00000412660.2:p.Arg29Gln
ENST00000616902.4:c.1121G>A ENSP00000482824.1:p.Arg374Gln
NM_006343.2:c.2165G>A NP_006334.2:p.Arg722Gln
XM_005263565.3:c.2165G>A XP_005263622.1:p.Arg722Gln
XM_005263568.3:c.2165G>A XP_005263625.1:p.Arg722Gln
XM_011510490.1:c.1976G>A XP_011508792.1:p.Arg659Gln
XM_011510491.1:c.950G>A XP_011508793.1:p.Arg317Gln
XM_005263565.4:c.2165G>A XP_005263622.1:p.Arg722Gln
XM_005263568.4:c.2165G>A XP_005263625.1:p.Arg722Gln
XM_011510490.3:c.1976G>A XP_011508792.1:p.Arg659Gln
XM_017003164.1:c.1976G>A XP_016858653.1:p.Arg659Gln
XM_017003165.2:c.950G>A XP_016858654.1:p.Arg317Gln
NM_006343.3:c.2165G>A MANE Select NP_006334.2:p.Arg722Gln