Canonical Allele Identifier: CA386122894

Gene: KITLG

Linked Data

• MyVariant Identifiers: chr12:g.88926265T>G (hg19) ; chr12:g.88532488T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88532488T>G , CM000674.2:g.88532488T>G	GRCh38
NC_000012.11:g.88926265T>G , CM000674.1:g.88926265T>G	GRCh37
NC_000012.10:g.87450396T>G	NCBI36
NG_012098.1:g.52974A>C
NG_012098.2:g.52974A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.145A>C	ENSP00000054216.5:p.Lys49Gln
ENST00000644744.1:c.145A>C MANE Select	ENSP00000495951.1:p.Lys49Gln
ENST00000646633.1:c.*146A>C	ENSP00000494139.1:n.*146A>C
ENST00000228280.9:c.145A>C	ENSP00000228280.5:p.Lys49Gln
ENST00000347404.9:c.145A>C	ENSP00000054216.5:p.Lys49Gln
ENST00000357116.4:c.-47-25351A>C	ENSP00000474021.1:n.-47-25351A>C
ENST00000378535.4:n.88A>C
ENST00000552044.1:c.-9A>C	ENSP00000475042.1:n.-9A>C
NM_000899.4:c.145A>C	NP_000890.1:p.Lys49Gln
NM_003994.5:c.145A>C	NP_003985.2:p.Lys49Gln
NM_000899.5:c.145A>C MANE Select	NP_000890.1:p.Lys49Gln
NM_003994.6:c.145A>C	NP_003985.2:p.Lys49Gln