Canonical Allele Identifier: CA348232210
Community Standard Title: NM_006343.3(MERTK):c.1647T>G (p.Tyr549Ter)
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112001243T>G , CM000664.2:g.112001243T>G GRCh38
NC_000002.11:g.112758820T>G , CM000664.1:g.112758820T>G GRCh37
NC_000002.10:g.112475291T>G NCBI36
NG_011607.1:g.107630T>G

Transcript Alleles

HGVS Amino-acid Change
NM_006343.3:c.1647T>G MANE Select NP_006334.2:p.Tyr549Ter
ENST00000295408.9:c.1647T>G MANE Select ENSP00000295408.4:p.Tyr549Ter
NM_006343.2:c.1647T>G NP_006334.2:p.Tyr549Ter
ENST00000295408.8:c.1647T>G ENSP00000295408.4:p.Tyr549Ter
ENST00000409780.5:c.1119T>G ENSP00000387277.1:p.Tyr373Ter
ENST00000421804.6:c.1647T>G ENSP00000389152.2:p.Tyr549Ter
ENST00000439966.5:c.*1120T>G ENSP00000402129.1:n.*1120T>G
ENST00000473065.1:n.150T>G
ENST00000616902.4:c.612T>G ENSP00000482824.1:p.Tyr204Ter
XM_005263565.3:c.1647T>G XP_005263622.1:p.Tyr549Ter
XM_005263565.4:c.1647T>G XP_005263622.1:p.Tyr549Ter
XM_005263568.3:c.1647T>G XP_005263625.1:p.Tyr549Ter
XM_005263568.4:c.1647T>G XP_005263625.1:p.Tyr549Ter
XM_011510490.1:c.1458T>G XP_011508792.1:p.Tyr486Ter
XM_011510490.3:c.1458T>G XP_011508792.1:p.Tyr486Ter
XM_011510491.1:c.432T>G XP_011508793.1:p.Tyr144Ter
XM_017003164.1:c.1458T>G XP_016858653.1:p.Tyr486Ter
XM_017003165.2:c.432T>G XP_016858654.1:p.Tyr144Ter