Canonical Allele Identifier: CA1123505

Gene: JTB

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153977207G>A , CM000663.2:g.153977207G>A	GRCh38
NC_000001.10:g.153949683G>A , CM000663.1:g.153949683G>A	GRCh37
NC_000001.9:g.152216307G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006694.4:c.46C>T MANE Select	NP_006685.1:p.Leu16Phe
ENST00000271843.9:c.46C>T MANE Select	ENSP00000271843.4:p.Leu16Phe
NM_006694.3:c.46C>T	NP_006685.1:p.Leu16Phe
ENST00000271843.8:c.46C>T	ENSP00000271843.4:p.Leu16Phe
ENST00000356648.5:c.-242C>T	ENSP00000349069.1:n.-242C>T
ENST00000368589.5:c.-242C>T	ENSP00000357578.1:n.-242C>T
ENST00000428469.1:c.-114+132C>T	ENSP00000395250.1:n.-114+132C>T
ENST00000461365.1:n.295C>T
ENST00000471173.1:n.420C>T
ENST00000648869.1:c.*870C>T	ENSP00000497071.1:n.*870C>T