Canonical Allele Identifier: CA386122850

Gene: KITLG

Linked Data

• MyVariant Identifiers: chr12:g.88926247G>T (hg19) ; chr12:g.88532470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88532470G>T , CM000674.2:g.88532470G>T	GRCh38
NC_000012.11:g.88926247G>T , CM000674.1:g.88926247G>T	GRCh37
NC_000012.10:g.87450378G>T	NCBI36
NG_012098.1:g.52992C>A
NG_012098.2:g.52992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.163C>A	ENSP00000054216.5:p.Leu55Ile
ENST00000644744.1:c.163C>A MANE Select	ENSP00000495951.1:p.Leu55Ile
ENST00000646633.1:c.*164C>A	ENSP00000494139.1:n.*164C>A
ENST00000228280.9:c.163C>A	ENSP00000228280.5:p.Leu55Ile
ENST00000347404.9:c.163C>A	ENSP00000054216.5:p.Leu55Ile
ENST00000357116.4:c.-47-25333C>A	ENSP00000474021.1:n.-47-25333C>A
ENST00000378535.4:n.106C>A
ENST00000552044.1:c.10C>A	ENSP00000475042.1:p.Leu4Ile
NM_000899.4:c.163C>A	NP_000890.1:p.Leu55Ile
NM_003994.5:c.163C>A	NP_003985.2:p.Leu55Ile
NM_000899.5:c.163C>A MANE Select	NP_000890.1:p.Leu55Ile
NM_003994.6:c.163C>A	NP_003985.2:p.Leu55Ile