Canonical Allele Identifier: CA1831920
Community Standard Title: NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112028394C>T , CM000664.2:g.112028394C>T GRCh38
NC_000002.11:g.112785971C>T , CM000664.1:g.112785971C>T GRCh37
NC_000002.10:g.112502442C>T NCBI36
NG_011607.1:g.134781C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006343.3:c.2530C>T MANE Select NP_006334.2:p.Arg844Cys
ENST00000295408.9:c.2530C>T MANE Select ENSP00000295408.4:p.Arg844Cys
NM_006343.2:c.2530C>T NP_006334.2:p.Arg844Cys
ENST00000295408.8:c.2530C>T ENSP00000295408.4:p.Arg844Cys
ENST00000409780.5:c.2002C>T ENSP00000387277.1:p.Arg668Cys
ENST00000421804.6:c.2530C>T ENSP00000389152.2:p.Arg844Cys
ENST00000439966.5:c.*2003C>T ENSP00000402129.1:n.*2003C>T
ENST00000449344.2:c.502C>T ENSP00000412660.2:p.Arg168Cys
ENST00000616902.4:c.1603C>T ENSP00000482824.1:p.Arg535Cys
XM_005263565.3:c.2486+6000C>T XP_005263622.1:n.2486+6000C>T
XM_005263565.4:c.2486+6000C>T XP_005263622.1:n.2486+6000C>T
XM_011510490.1:c.2341C>T XP_011508792.1:p.Arg781Cys
XM_011510490.3:c.2341C>T XP_011508792.1:p.Arg781Cys
XM_011510491.1:c.1315C>T XP_011508793.1:p.Arg439Cys
XM_017003164.1:c.2341C>T XP_016858653.1:p.Arg781Cys
XM_017003165.2:c.1315C>T XP_016858654.1:p.Arg439Cys