Canonical Allele Identifier: CA1279566601

Gene: MERTK

Linked Data

• ClinVar Variation Id: 2814893
• ClinVar RCV Id: RCV003683149
• dbSNP Id: rs1676773633
• gnomAD v4: 2-111997486-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997486C>G , CM000664.2:g.111997486C>G	GRCh38
NC_000002.11:g.112755063C>G , CM000664.1:g.112755063C>G	GRCh37
NC_000002.10:g.112471534C>G	NCBI36
NG_011607.1:g.103873C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295408.9:c.1604+10C>G MANE Select	ENSP00000295408.4:n.1604+10C>G
ENST00000295408.8:c.1604+10C>G	ENSP00000295408.4:n.1604+10C>G
ENST00000409780.5:c.1076+10C>G	ENSP00000387277.1:n.1076+10C>G
ENST00000421804.6:c.1604+10C>G	ENSP00000389152.2:n.1604+10C>G
ENST00000439966.5:c.*1077+10C>G	ENSP00000402129.1:n.*1077+10C>G
ENST00000473065.1:n.107+10C>G
ENST00000616902.4:c.569+10C>G	ENSP00000482824.1:n.569+10C>G
NM_006343.2:c.1604+10C>G	NP_006334.2:n.1604+10C>G
XM_005263565.3:c.1604+10C>G	XP_005263622.1:n.1604+10C>G
XM_005263568.3:c.1604+10C>G	XP_005263625.1:n.1604+10C>G
XM_011510490.1:c.1415+10C>G	XP_011508792.1:n.1415+10C>G
XM_011510491.1:c.389+10C>G	XP_011508793.1:n.389+10C>G
XM_005263565.4:c.1604+10C>G	XP_005263622.1:n.1604+10C>G
XM_005263568.4:c.1604+10C>G	XP_005263625.1:n.1604+10C>G
XM_011510490.3:c.1415+10C>G	XP_011508792.1:n.1415+10C>G
XM_017003164.1:c.1415+10C>G	XP_016858653.1:n.1415+10C>G
XM_017003165.2:c.389+10C>G	XP_016858654.1:n.389+10C>G
NM_006343.3:c.1604+10C>G MANE Select	NP_006334.2:n.1604+10C>G