Canonical Allele Identifier: CA1831835
Community Standard Title: NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln)
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112022375G>C , CM000664.2:g.112022375G>C GRCh38
NC_000002.11:g.112779952G>C , CM000664.1:g.112779952G>C GRCh37
NC_000002.10:g.112496423G>C NCBI36
NG_011607.1:g.128762G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006343.3:c.2467G>C MANE Select NP_006334.2:p.Glu823Gln
ENST00000295408.9:c.2467G>C MANE Select ENSP00000295408.4:p.Glu823Gln
NM_006343.2:c.2467G>C NP_006334.2:p.Glu823Gln
ENST00000295408.8:c.2467G>C ENSP00000295408.4:p.Glu823Gln
ENST00000409780.5:c.1939G>C ENSP00000387277.1:p.Glu647Gln
ENST00000421804.6:c.2467G>C ENSP00000389152.2:p.Glu823Gln
ENST00000439966.5:c.*1940G>C ENSP00000402129.1:n.*1940G>C
ENST00000449344.2:c.439G>C ENSP00000412660.2:p.Glu147Gln
ENST00000616902.4:c.1423G>C ENSP00000482824.1:p.Glu475Gln
XM_005263565.3:c.2467G>C XP_005263622.1:p.Glu823Gln
XM_005263565.4:c.2467G>C XP_005263622.1:p.Glu823Gln
XM_011510490.1:c.2278G>C XP_011508792.1:p.Glu760Gln
XM_011510490.3:c.2278G>C XP_011508792.1:p.Glu760Gln
XM_011510491.1:c.1252G>C XP_011508793.1:p.Glu418Gln
XM_017003164.1:c.2278G>C XP_016858653.1:p.Glu760Gln
XM_017003165.2:c.1252G>C XP_016858654.1:p.Glu418Gln