Canonical Allele Identifier: CA1172141047

Gene: JAK1

Linked Data

• dbSNP Id: rs1647238108

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65049852T>G , CM000663.2:g.65049852T>G	GRCh38
NC_000001.10:g.65515535T>G , CM000663.1:g.65515535T>G	GRCh37
NC_000001.9:g.65288123T>G	NCBI36
NG_023402.2:g.22895A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000671954.2:c.-180-5270A>C	ENSP00000500841.1:n.-180-5270A>C
ENST00000672434.2:c.-162+16776A>C	ENSP00000499900.1:n.-162+16776A>C
ENST00000672751.2:c.-78+17752A>C	ENSP00000500745.2:n.-78+17752A>C
ENST00000673502.2:n.374+16269A>C
ENST00000699263.1:c.-387+17752A>C	ENSP00000514244.1:n.-387+17752A>C
ENST00000699312.1:c.-78+16776A>C	ENSP00000514291.1:n.-78+16776A>C
ENST00000699314.1:c.-856+17752A>C	ENSP00000514294.1:n.-856+17752A>C
ENST00000671954.1:c.-180-5270A>C	ENSP00000500841.1:n.-180-5270A>C
ENST00000672099.1:c.-384+17752A>C	ENSP00000500328.1:n.-384+17752A>C
ENST00000672434.1:c.-162+16776A>C	ENSP00000499900.1:n.-162+16776A>C
ENST00000672751.1:c.-78+17752A>C	ENSP00000500745.1:n.-78+17752A>C
ENST00000673502.1:c.-78+16269A>C	ENSP00000500011.1:n.-78+16269A>C
XM_011542510.1:c.231-928A>C	XP_011540812.1:n.231-928A>C
NM_001321852.1:c.-78+17752A>C	NP_001308781.1:n.-78+17752A>C
NM_001321853.1:c.-162+16776A>C	NP_001308782.1:n.-162+16776A>C
NM_001321854.1:c.-78+16776A>C	NP_001308783.1:n.-78+16776A>C
NM_001321852.2:c.-78+17752A>C	NP_001308781.1:n.-78+17752A>C
NM_001321853.2:c.-162+16776A>C	NP_001308782.1:n.-162+16776A>C
NM_001321854.2:c.-78+16776A>C	NP_001308783.1:n.-78+16776A>C