Canonical Allele Identifier: CA1172148442

Gene: JAK1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65066068A>T , CM000663.2:g.65066068A>T	GRCh38
NC_000001.10:g.65531751A>T , CM000663.1:g.65531751A>T	GRCh37
NC_000001.9:g.65304339A>T	NCBI36
NG_023402.2:g.6679T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671954.2:c.-181+1536T>A	ENSP00000500841.1:n.-181+1536T>A
ENST00000672434.2:c.-162+560T>A	ENSP00000499900.1:n.-162+560T>A
ENST00000672751.2:c.-78+1536T>A	ENSP00000500745.2:n.-78+1536T>A
ENST00000673502.2:n.374+53T>A
ENST00000699263.1:c.-387+1536T>A	ENSP00000514244.1:n.-387+1536T>A
ENST00000699312.1:c.-78+560T>A	ENSP00000514291.1:n.-78+560T>A
ENST00000699314.1:c.-856+1536T>A	ENSP00000514294.1:n.-856+1536T>A
ENST00000671954.1:c.-181+1536T>A	ENSP00000500841.1:n.-181+1536T>A
ENST00000672099.1:c.-384+1536T>A	ENSP00000500328.1:n.-384+1536T>A
ENST00000672434.1:c.-162+560T>A	ENSP00000499900.1:n.-162+560T>A
ENST00000672751.1:c.-78+1536T>A	ENSP00000500745.1:n.-78+1536T>A
ENST00000673502.1:c.-78+53T>A	ENSP00000500011.1:n.-78+53T>A
XM_011542510.1:c.230+560T>A	XP_011540812.1:n.230+560T>A
NM_001321852.1:c.-78+1536T>A	NP_001308781.1:n.-78+1536T>A
NM_001321853.1:c.-162+560T>A	NP_001308782.1:n.-162+560T>A
NM_001321854.1:c.-78+560T>A	NP_001308783.1:n.-78+560T>A
NM_001321852.2:c.-78+1536T>A	NP_001308781.1:n.-78+1536T>A
NM_001321853.2:c.-162+560T>A	NP_001308782.1:n.-162+560T>A
NM_001321854.2:c.-78+560T>A	NP_001308783.1:n.-78+560T>A