Canonical Allele Identifier: CA348235964
Community Standard Title: NM_006343.3(MERTK):c.1296+1G>C
Gene: MERTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111982994G>C , CM000664.2:g.111982994G>C GRCh38
NC_000002.11:g.112740571G>C , CM000664.1:g.112740571G>C GRCh37
NC_000002.10:g.112457042G>C NCBI36
NG_011607.1:g.89381G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006343.3:c.1296+1G>C MANE Select NP_006334.2:n.1296+1G>C
ENST00000295408.9:c.1296+1G>C MANE Select ENSP00000295408.4:n.1296+1G>C
NM_006343.2:c.1296+1G>C NP_006334.2:n.1296+1G>C
ENST00000295408.8:c.1296+1G>C ENSP00000295408.4:n.1296+1G>C
ENST00000409780.5:c.768+1G>C ENSP00000387277.1:n.768+1G>C
ENST00000421804.6:c.1296+1G>C ENSP00000389152.2:n.1296+1G>C
ENST00000439966.5:c.*769+1G>C ENSP00000402129.1:n.*769+1G>C
ENST00000616902.4:c.81+1G>C ENSP00000482824.1:n.81+1G>C
XM_005263565.3:c.1296+1G>C XP_005263622.1:n.1296+1G>C
XM_005263565.4:c.1296+1G>C XP_005263622.1:n.1296+1G>C
XM_005263568.3:c.1296+1G>C XP_005263625.1:n.1296+1G>C
XM_005263568.4:c.1296+1G>C XP_005263625.1:n.1296+1G>C
XM_011510490.1:c.1107+1G>C XP_011508792.1:n.1107+1G>C
XM_011510490.3:c.1107+1G>C XP_011508792.1:n.1107+1G>C
XM_011510491.1:c.81+1G>C XP_011508793.1:n.81+1G>C
XM_017003164.1:c.1107+1G>C XP_016858653.1:n.1107+1G>C
XM_017003165.2:c.81+1G>C XP_016858654.1:n.81+1G>C