Canonical Allele Identifier: CA253476
Gene: MERTK HGNC NCBI

Linked Data

ClinVar Variation Id: 5403
dbSNP Id: rs371956016

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112019523G>T , CM000664.2:g.112019523G>T GRCh38
NC_000002.11:g.112777100G>T , CM000664.1:g.112777100G>T GRCh37
NC_000002.10:g.112493571G>T NCBI36
NG_011607.1:g.125910G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.2189+1G>T MANE Select ENSP00000295408.4:n.2189+1G>T
ENST00000295408.8:c.2189+1G>T ENSP00000295408.4:n.2189+1G>T
ENST00000409780.5:c.1661+1G>T ENSP00000387277.1:n.1661+1G>T
ENST00000421804.6:c.2189+1G>T ENSP00000389152.2:n.2189+1G>T
ENST00000439966.5:c.*1662+1G>T ENSP00000402129.1:n.*1662+1G>T
ENST00000449344.2:c.110+1G>T ENSP00000412660.2:n.110+1G>T
ENST00000616902.4:c.1145+1G>T ENSP00000482824.1:n.1145+1G>T
NM_006343.2:c.2189+1G>T NP_006334.2:n.2189+1G>T
XM_005263565.3:c.2189+1G>T XP_005263622.1:n.2189+1G>T
XM_005263568.3:c.2189+1G>T XP_005263625.1:n.2189+1G>T
XM_011510490.1:c.2000+1G>T XP_011508792.1:n.2000+1G>T
XM_011510491.1:c.974+1G>T XP_011508793.1:n.974+1G>T
XM_005263565.4:c.2189+1G>T XP_005263622.1:n.2189+1G>T
XM_005263568.4:c.2189+1G>T XP_005263625.1:n.2189+1G>T
XM_011510490.3:c.2000+1G>T XP_011508792.1:n.2000+1G>T
XM_017003164.1:c.2000+1G>T XP_016858653.1:n.2000+1G>T
XM_017003165.2:c.974+1G>T XP_016858654.1:n.974+1G>T
NM_006343.3:c.2189+1G>T MANE Select NP_006334.2:n.2189+1G>T