Canonical Allele Identifier: CA6713694

Gene: KITLG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88516411A>G , CM000674.2:g.88516411A>G	GRCh38
NC_000012.11:g.88910188A>G , CM000674.1:g.88910188A>G	GRCh37
NC_000012.10:g.87434319A>G	NCBI36
NG_012098.1:g.69051T>C
NG_012098.2:g.69051T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000899.5:c.443T>C MANE Select	NP_000890.1:p.Ile148Thr
ENST00000644744.1:c.443T>C MANE Select	ENSP00000495951.1:p.Ile148Thr
NM_000899.4:c.443T>C	NP_000890.1:p.Ile148Thr
NM_003994.5:c.443T>C	NP_003985.2:p.Ile148Thr
NM_003994.6:c.443T>C	NP_003985.2:p.Ile148Thr
ENST00000228280.9:c.443T>C	ENSP00000228280.5:p.Ile148Thr
ENST00000347404.10:c.443T>C	ENSP00000054216.5:p.Ile148Thr
ENST00000347404.9:c.443T>C	ENSP00000054216.5:p.Ile148Thr
ENST00000357116.4:c.-47-9274T>C	ENSP00000474021.1:n.-47-9274T>C
ENST00000378535.4:n.386T>C
ENST00000613305.1:c.15+2286T>C	ENSP00000479271.1:n.15+2286T>C
ENST00000646633.1:c.*444T>C	ENSP00000494139.1:n.*444T>C