Canonical Allele Identifier: CA122727
Gene: KITLG HGNC NCBI

Linked Data

ClinVar Variation Id: 12813
ClinVar RCV Id: RCV000013661
dbSNP Id: rs121918653
MyVariant Identifiers: chr12:g.88939551T>C (hg19) chr12:g.88545774T>C (hg38)
PubMed: PMID:15040480 PMID:19375057 PMID:21368769
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88545774T>C , CM000674.2:g.88545774T>C GRCh38
NC_000012.11:g.88939551T>C , CM000674.1:g.88939551T>C GRCh37
NC_000012.10:g.87463682T>C NCBI36
NG_012098.1:g.39688A>G
NG_012098.2:g.39688A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000347404.10:c.107A>G ENSP00000054216.5:p.Asn36Ser
ENST00000644744.1:c.107A>G MANE Select ENSP00000495951.1:p.Asn36Ser
ENST00000646633.1:c.*108A>G ENSP00000494139.1:n.*108A>G
ENST00000228280.9:c.107A>G ENSP00000228280.5:p.Asn36Ser
ENST00000347404.9:c.107A>G ENSP00000054216.5:p.Asn36Ser
ENST00000357116.4:c.-48+34490A>G ENSP00000474021.1:n.-48+34490A>G
ENST00000552044.1:c.-47A>G ENSP00000475042.1:n.-47A>G
NM_000899.4:c.107A>G NP_000890.1:p.Asn36Ser
NM_003994.5:c.107A>G NP_003985.2:p.Asn36Ser
NM_000899.5:c.107A>G MANE Select NP_000890.1:p.Asn36Ser
NM_003994.6:c.107A>G NP_003985.2:p.Asn36Ser
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