Canonical Allele Identifier: CA737949943

Gene: JAK1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65063072T>G , CM000663.2:g.65063072T>G	GRCh38
NC_000001.10:g.65528755T>G , CM000663.1:g.65528755T>G	GRCh37
NC_000001.9:g.65301343T>G	NCBI36
NG_023402.2:g.9675A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671954.2:c.-181+4532A>C	ENSP00000500841.1:n.-181+4532A>C
ENST00000672434.2:c.-162+3556A>C	ENSP00000499900.1:n.-162+3556A>C
ENST00000672751.2:c.-78+4532A>C	ENSP00000500745.2:n.-78+4532A>C
ENST00000673502.2:n.374+3049A>C
ENST00000699263.1:c.-387+4532A>C	ENSP00000514244.1:n.-387+4532A>C
ENST00000699312.1:c.-78+3556A>C	ENSP00000514291.1:n.-78+3556A>C
ENST00000699314.1:c.-856+4532A>C	ENSP00000514294.1:n.-856+4532A>C
ENST00000671954.1:c.-181+4532A>C	ENSP00000500841.1:n.-181+4532A>C
ENST00000672099.1:c.-384+4532A>C	ENSP00000500328.1:n.-384+4532A>C
ENST00000672434.1:c.-162+3556A>C	ENSP00000499900.1:n.-162+3556A>C
ENST00000672751.1:c.-78+4532A>C	ENSP00000500745.1:n.-78+4532A>C
ENST00000673502.1:c.-78+3049A>C	ENSP00000500011.1:n.-78+3049A>C
XM_011542510.1:c.230+3556A>C	XP_011540812.1:n.230+3556A>C
NM_001321852.1:c.-78+4532A>C	NP_001308781.1:n.-78+4532A>C
NM_001321853.1:c.-162+3556A>C	NP_001308782.1:n.-162+3556A>C
NM_001321854.1:c.-78+3556A>C	NP_001308783.1:n.-78+3556A>C
NM_001321852.2:c.-78+4532A>C	NP_001308781.1:n.-78+4532A>C
NM_001321853.2:c.-162+3556A>C	NP_001308782.1:n.-162+3556A>C
NM_001321854.2:c.-78+3556A>C	NP_001308783.1:n.-78+3556A>C