Canonical Allele Identifier: CA348238877
Community Standard Title: NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112021459G>A , CM000664.2:g.112021459G>A GRCh38
NC_000002.11:g.112779036G>A , CM000664.1:g.112779036G>A GRCh37
NC_000002.10:g.112495507G>A NCBI36
NG_011607.1:g.127846G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006343.3:c.2227G>A MANE Select NP_006334.2:p.Gly743Ser
ENST00000295408.9:c.2227G>A MANE Select ENSP00000295408.4:p.Gly743Ser
NM_006343.2:c.2227G>A NP_006334.2:p.Gly743Ser
ENST00000295408.8:c.2227G>A ENSP00000295408.4:p.Gly743Ser
ENST00000409780.5:c.1699G>A ENSP00000387277.1:p.Gly567Ser
ENST00000421804.6:c.2227G>A ENSP00000389152.2:p.Gly743Ser
ENST00000439966.5:c.*1700G>A ENSP00000402129.1:n.*1700G>A
ENST00000449344.2:c.199G>A ENSP00000412660.2:p.Gly67Ser
ENST00000616902.4:c.1183G>A ENSP00000482824.1:p.Gly395Ser
XM_005263565.3:c.2227G>A XP_005263622.1:p.Gly743Ser
XM_005263565.4:c.2227G>A XP_005263622.1:p.Gly743Ser
XM_011510490.1:c.2038G>A XP_011508792.1:p.Gly680Ser
XM_011510490.3:c.2038G>A XP_011508792.1:p.Gly680Ser
XM_011510491.1:c.1012G>A XP_011508793.1:p.Gly338Ser
XM_017003164.1:c.2038G>A XP_016858653.1:p.Gly680Ser
XM_017003165.2:c.1012G>A XP_016858654.1:p.Gly338Ser