Canonical Allele Identifier: CA386122885

Gene: KITLG

Linked Data

• MyVariant Identifiers: chr12:g.88926262C>G (hg19) ; chr12:g.88532485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88532485C>G , CM000674.2:g.88532485C>G	GRCh38
NC_000012.11:g.88926262C>G , CM000674.1:g.88926262C>G	GRCh37
NC_000012.10:g.87450393C>G	NCBI36
NG_012098.1:g.52977G>C
NG_012098.2:g.52977G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.148G>C	ENSP00000054216.5:p.Asp50His
ENST00000644744.1:c.148G>C MANE Select	ENSP00000495951.1:p.Asp50His
ENST00000646633.1:c.*149G>C	ENSP00000494139.1:n.*149G>C
ENST00000228280.9:c.148G>C	ENSP00000228280.5:p.Asp50His
ENST00000347404.9:c.148G>C	ENSP00000054216.5:p.Asp50His
ENST00000357116.4:c.-47-25348G>C	ENSP00000474021.1:n.-47-25348G>C
ENST00000378535.4:n.91G>C
ENST00000552044.1:c.-6G>C	ENSP00000475042.1:n.-6G>C
NM_000899.4:c.148G>C	NP_000890.1:p.Asp50His
NM_003994.5:c.148G>C	NP_003985.2:p.Asp50His
NM_000899.5:c.148G>C MANE Select	NP_000890.1:p.Asp50His
NM_003994.6:c.148G>C	NP_003985.2:p.Asp50His