Canonical Allele Identifier: CA1831141
Gene: MERTK HGNC NCBI

Linked Data

ClinVar Variation Id: 330745
dbSNP Id: rs3761702

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111947566A>G , CM000664.2:g.111947566A>G GRCh38
NC_000002.11:g.112705143A>G , CM000664.1:g.112705143A>G GRCh37
NC_000002.10:g.112421614A>G NCBI36
NG_011607.1:g.53953A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.756A>G MANE Select ENSP00000295408.4:p.Pro252=
ENST00000295408.8:c.756A>G ENSP00000295408.4:p.Pro252=
ENST00000409780.5:c.228A>G ENSP00000387277.1:p.Pro76=
ENST00000421804.6:c.756A>G ENSP00000389152.2:p.Pro252=
ENST00000439966.5:c.*229A>G ENSP00000402129.1:n.*229A>G
ENST00000616902.4:c.-460A>G ENSP00000482824.1:n.-460A>G
NM_006343.2:c.756A>G NP_006334.2:p.Pro252=
XM_005263565.3:c.756A>G XP_005263622.1:p.Pro252=
XM_005263568.3:c.756A>G XP_005263625.1:p.Pro252=
XM_011510490.1:c.567A>G XP_011508792.1:p.Pro189=
XM_005263565.4:c.756A>G XP_005263622.1:p.Pro252=
XM_005263568.4:c.756A>G XP_005263625.1:p.Pro252=
XM_011510490.3:c.567A>G XP_011508792.1:p.Pro189=
XM_017003164.1:c.567A>G XP_016858653.1:p.Pro189=
XM_017003165.2:c.-512A>G XP_016858654.1:n.-512A>G
NM_006343.3:c.756A>G MANE Select NP_006334.2:p.Pro252=