Canonical Allele Identifier: CA386122865
Gene: KITLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88532477C>A , CM000674.2:g.88532477C>A GRCh38
NC_000012.11:g.88926254C>A , CM000674.1:g.88926254C>A GRCh37
NC_000012.10:g.87450385C>A NCBI36
NG_012098.1:g.52985G>T
NG_012098.2:g.52985G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347404.10:c.156G>T ENSP00000054216.5:p.Met52Ile
ENST00000644744.1:c.156G>T MANE Select ENSP00000495951.1:p.Met52Ile
ENST00000646633.1:c.*157G>T ENSP00000494139.1:n.*157G>T
ENST00000228280.9:c.156G>T ENSP00000228280.5:p.Met52Ile
ENST00000347404.9:c.156G>T ENSP00000054216.5:p.Met52Ile
ENST00000357116.4:c.-47-25340G>T ENSP00000474021.1:n.-47-25340G>T
ENST00000378535.4:n.99G>T
ENST00000552044.1:c.3G>T ENSP00000475042.1:p.Met1Ile
NM_000899.4:c.156G>T NP_000890.1:p.Met52Ile
NM_003994.5:c.156G>T NP_003985.2:p.Met52Ile
NM_000899.5:c.156G>T MANE Select NP_000890.1:p.Met52Ile
NM_003994.6:c.156G>T NP_003985.2:p.Met52Ile