Canonical Allele Identifier: CA348231117

Gene: MERTK

Linked Data

• MyVariant Identifiers: chr2:g.112754932G>T (hg19) ; chr2:g.111997355G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111997355G>T , CM000664.2:g.111997355G>T	GRCh38
NC_000002.11:g.112754932G>T , CM000664.1:g.112754932G>T	GRCh37
NC_000002.10:g.112471403G>T	NCBI36
NG_011607.1:g.103742G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.1483G>T MANE Select	ENSP00000295408.4:p.Ala495Ser
ENST00000295408.8:c.1483G>T	ENSP00000295408.4:p.Ala495Ser
ENST00000409780.5:c.955G>T	ENSP00000387277.1:p.Ala319Ser
ENST00000421804.6:c.1483G>T	ENSP00000389152.2:p.Ala495Ser
ENST00000439966.5:c.*956G>T	ENSP00000402129.1:n.*956G>T
ENST00000616902.4:c.452G>T	ENSP00000482824.1:p.Gly151Val
NM_006343.2:c.1483G>T	NP_006334.2:p.Ala495Ser
XM_005263565.3:c.1483G>T	XP_005263622.1:p.Ala495Ser
XM_005263568.3:c.1483G>T	XP_005263625.1:p.Ala495Ser
XM_011510490.1:c.1294G>T	XP_011508792.1:p.Ala432Ser
XM_011510491.1:c.268G>T	XP_011508793.1:p.Ala90Ser
XM_005263565.4:c.1483G>T	XP_005263622.1:p.Ala495Ser
XM_005263568.4:c.1483G>T	XP_005263625.1:p.Ala495Ser
XM_011510490.3:c.1294G>T	XP_011508792.1:p.Ala432Ser
XM_017003164.1:c.1294G>T	XP_016858653.1:p.Ala432Ser
XM_017003165.2:c.268G>T	XP_016858654.1:p.Ala90Ser
NM_006343.3:c.1483G>T MANE Select	NP_006334.2:p.Ala495Ser