Canonical Allele Identifier: CA386122902
Gene: KITLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88532493A>G , CM000674.2:g.88532493A>G GRCh38
NC_000012.11:g.88926270A>G , CM000674.1:g.88926270A>G GRCh37
NC_000012.10:g.87450401A>G NCBI36
NG_012098.1:g.52969T>C
NG_012098.2:g.52969T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347404.10:c.140T>C ENSP00000054216.5:p.Leu47Pro
ENST00000644744.1:c.140T>C MANE Select ENSP00000495951.1:p.Leu47Pro
ENST00000646633.1:c.*141T>C ENSP00000494139.1:n.*141T>C
ENST00000228280.9:c.140T>C ENSP00000228280.5:p.Leu47Pro
ENST00000347404.9:c.140T>C ENSP00000054216.5:p.Leu47Pro
ENST00000357116.4:c.-47-25356T>C ENSP00000474021.1:n.-47-25356T>C
ENST00000378535.4:n.83T>C
ENST00000552044.1:c.-14T>C ENSP00000475042.1:n.-14T>C
NM_000899.4:c.140T>C NP_000890.1:p.Leu47Pro
NM_003994.5:c.140T>C NP_003985.2:p.Leu47Pro
NM_000899.5:c.140T>C MANE Select NP_000890.1:p.Leu47Pro
NM_003994.6:c.140T>C NP_003985.2:p.Leu47Pro