Canonical Allele Identifier: CA428548441
Gene: MERTK HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.112686935T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.111929358T>C , CM000664.2:g.111929358T>C GRCh38
NC_000002.11:g.112686935T>C , CM000664.1:g.112686935T>C GRCh37
NC_000002.10:g.112403406T>C NCBI36
NG_011607.1:g.35745T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295408.9:c.300T>C MANE Select ENSP00000295408.4:p.Val100=
ENST00000295408.8:c.300T>C ENSP00000295408.4:p.Val100=
ENST00000409780.5:c.-46-15602T>C ENSP00000387277.1:n.-46-15602T>C
ENST00000421804.6:c.300T>C ENSP00000389152.2:p.Val100=
ENST00000439966.5:c.246+54T>C ENSP00000402129.1:n.246+54T>C
ENST00000616902.4:c.-916T>C ENSP00000482824.1:n.-916T>C
NM_006343.2:c.300T>C NP_006334.2:p.Val100=
XM_005263565.3:c.300T>C XP_005263622.1:p.Val100=
XM_005263568.3:c.300T>C XP_005263625.1:p.Val100=
XM_011510490.1:c.111T>C XP_011508792.1:p.Val37=
XM_005263565.4:c.300T>C XP_005263622.1:p.Val100=
XM_005263568.4:c.300T>C XP_005263625.1:p.Val100=
XM_011510490.3:c.111T>C XP_011508792.1:p.Val37=
XM_017003164.1:c.111T>C XP_016858653.1:p.Val37=
XM_017003165.2:c.-968T>C XP_016858654.1:n.-968T>C
NM_006343.3:c.300T>C MANE Select NP_006334.2:p.Val100=