Canonical Allele Identifier: CA1831017
Community Standard Title: NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111929403C>G , CM000664.2:g.111929403C>G GRCh38
NC_000002.11:g.112686980C>G , CM000664.1:g.112686980C>G GRCh37
NC_000002.10:g.112403451C>G NCBI36
NG_011607.1:g.35790C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006343.3:c.345C>G MANE Select NP_006334.2:p.Cys115Trp
ENST00000295408.9:c.345C>G MANE Select ENSP00000295408.4:p.Cys115Trp
NM_006343.2:c.345C>G NP_006334.2:p.Cys115Trp
ENST00000295408.8:c.345C>G ENSP00000295408.4:p.Cys115Trp
ENST00000409780.5:c.-46-15557C>G ENSP00000387277.1:n.-46-15557C>G
ENST00000421804.6:c.345C>G ENSP00000389152.2:p.Cys115Trp
ENST00000439966.5:c.246+99C>G ENSP00000402129.1:n.246+99C>G
ENST00000616902.4:c.-871C>G ENSP00000482824.1:n.-871C>G
XM_005263565.3:c.345C>G XP_005263622.1:p.Cys115Trp
XM_005263565.4:c.345C>G XP_005263622.1:p.Cys115Trp
XM_005263568.3:c.345C>G XP_005263625.1:p.Cys115Trp
XM_005263568.4:c.345C>G XP_005263625.1:p.Cys115Trp
XM_011510490.1:c.156C>G XP_011508792.1:p.Cys52Trp
XM_011510490.3:c.156C>G XP_011508792.1:p.Cys52Trp
XM_017003164.1:c.156C>G XP_016858653.1:p.Cys52Trp
XM_017003165.2:c.-923C>G XP_016858654.1:n.-923C>G