Canonical Allele Identifier: CA348229261
Gene: MERTK HGNC NCBI

Linked Data

ClinVar Variation Id: 3125365
ClinVar RCV Id: RCV004424205
dbSNP Id: rs1684981944

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111947534C>G , CM000664.2:g.111947534C>G GRCh38
NC_000002.11:g.112705111C>G , CM000664.1:g.112705111C>G GRCh37
NC_000002.10:g.112421582C>G NCBI36
NG_011607.1:g.53921C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.724C>G MANE Select ENSP00000295408.4:p.Pro242Ala
ENST00000295408.8:c.724C>G ENSP00000295408.4:p.Pro242Ala
ENST00000409780.5:c.196C>G ENSP00000387277.1:p.Pro66Ala
ENST00000421804.6:c.724C>G ENSP00000389152.2:p.Pro242Ala
ENST00000439966.5:c.*197C>G ENSP00000402129.1:n.*197C>G
ENST00000616902.4:c.-492C>G ENSP00000482824.1:n.-492C>G
NM_006343.2:c.724C>G NP_006334.2:p.Pro242Ala
XM_005263565.3:c.724C>G XP_005263622.1:p.Pro242Ala
XM_005263568.3:c.724C>G XP_005263625.1:p.Pro242Ala
XM_011510490.1:c.535C>G XP_011508792.1:p.Pro179Ala
XM_005263565.4:c.724C>G XP_005263622.1:p.Pro242Ala
XM_005263568.4:c.724C>G XP_005263625.1:p.Pro242Ala
XM_011510490.3:c.535C>G XP_011508792.1:p.Pro179Ala
XM_017003164.1:c.535C>G XP_016858653.1:p.Pro179Ala
XM_017003165.2:c.-544C>G XP_016858654.1:n.-544C>G
NM_006343.3:c.724C>G MANE Select NP_006334.2:p.Pro242Ala