Canonical Allele Identifier: CA10727991

Gene: JAK1

Linked Data

• dbSNP Id: rs705509
• gnomAD v2: 1-65531751-A-G
• gnomAD v3: 1-65066068-A-G
• gnomAD v4: 1-65066068-A-G
• MyVariant Identifiers: chr1:g.65531751A>G (hg19) ; chr1:g.65066068A>G (hg38)

Genomic Alleles

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

Transcript Alleles

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