Canonical Allele Identifier: CA1831930
Community Standard Title: NM_006343.3(MERTK):c.2590G>T (p.Val864Phe)
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112028454G>T , CM000664.2:g.112028454G>T GRCh38
NC_000002.11:g.112786031G>T , CM000664.1:g.112786031G>T GRCh37
NC_000002.10:g.112502502G>T NCBI36
NG_011607.1:g.134841G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006343.3:c.2590G>T MANE Select NP_006334.2:p.Val864Phe
ENST00000295408.9:c.2590G>T MANE Select ENSP00000295408.4:p.Val864Phe
NM_006343.2:c.2590G>T NP_006334.2:p.Val864Phe
ENST00000295408.8:c.2590G>T ENSP00000295408.4:p.Val864Phe
ENST00000409780.5:c.2062G>T ENSP00000387277.1:p.Val688Phe
ENST00000421804.6:c.2590G>T ENSP00000389152.2:p.Val864Phe
ENST00000439966.5:c.*2063G>T ENSP00000402129.1:n.*2063G>T
ENST00000449344.2:c.562G>T ENSP00000412660.2:p.Val188Phe
ENST00000616902.4:c.1663G>T ENSP00000482824.1:p.Val555Phe
XM_005263565.3:c.2486+6060G>T XP_005263622.1:n.2486+6060G>T
XM_005263565.4:c.2486+6060G>T XP_005263622.1:n.2486+6060G>T
XM_011510490.1:c.2401G>T XP_011508792.1:p.Val801Phe
XM_011510490.3:c.2401G>T XP_011508792.1:p.Val801Phe
XM_011510491.1:c.1375G>T XP_011508793.1:p.Val459Phe
XM_017003164.1:c.2401G>T XP_016858653.1:p.Val801Phe
XM_017003165.2:c.1375G>T XP_016858654.1:p.Val459Phe