Canonical Allele Identifier: CA186001
Gene: KITLG HGNC NCBI

Linked Data

ClinVar Variation Id: 183168
ClinVar RCV Id: RCV000162036
dbSNP Id: rs730882156
MyVariant Identifiers: chr12:g.88939560A>G (hg19) chr12:g.88545783A>G (hg38)
PubMed: PMID:15551335 PMID:21368769
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88545783A>G , CM000674.2:g.88545783A>G GRCh38
NC_000012.11:g.88939560A>G , CM000674.1:g.88939560A>G GRCh37
NC_000012.10:g.87463691A>G NCBI36
NG_012098.1:g.39679T>C
NG_012098.2:g.39679T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000347404.10:c.98T>C ENSP00000054216.5:p.Val33Ala
ENST00000644744.1:c.98T>C MANE Select ENSP00000495951.1:p.Val33Ala
ENST00000646633.1:c.*99T>C ENSP00000494139.1:n.*99T>C
ENST00000228280.9:c.98T>C ENSP00000228280.5:p.Val33Ala
ENST00000347404.9:c.98T>C ENSP00000054216.5:p.Val33Ala
ENST00000357116.4:c.-48+34481T>C ENSP00000474021.1:n.-48+34481T>C
ENST00000552044.1:c.-56T>C ENSP00000475042.1:n.-56T>C
NM_000899.4:c.98T>C NP_000890.1:p.Val33Ala
NM_003994.5:c.98T>C NP_003985.2:p.Val33Ala
NM_000899.5:c.98T>C MANE Select NP_000890.1:p.Val33Ala
NM_003994.6:c.98T>C NP_003985.2:p.Val33Ala
Search 100 bp 5'
Search 100 bp 3'