LDH info

Canonical Allele Identifier: CA10772556
Gene: JAK1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2254002

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64835986C>A , CM000663.2:g.64835986C>A GRCh38
NC_000001.10:g.65301669C>A , CM000663.1:g.65301669C>A GRCh37
NC_000001.9:g.65074257C>A NCBI36
NG_023402.1:g.135519G>T
NG_023402.2:g.236761G>T

Transcript Alleles

HGVS Amino-acid change
NM_002227.2:c.3258+112G>T VV NP_002218.2:p.=
XM_005270841.1:c.3258+112G>T XP_005270898.1:p.=
XM_006710624.1:c.3258+112G>T XP_006710687.1:p.=
XM_011541395.1:c.3255+112G>T XP_011539697.1:p.=
NM_001320923.1:c.3258+112G>T VV NP_001307852.1:p.=
NM_001321852.1:c.3258+112G>T VV NP_001308781.1:p.=
NM_001321853.1:c.3258+112G>T VV NP_001308782.1:p.=
NM_001321854.1:c.3258+112G>T VV NP_001308783.1:p.=
NM_001321855.1:c.3258+112G>T VV NP_001308784.1:p.=
NM_001321856.1:c.3258+112G>T VV NP_001308785.1:p.=
NM_001321857.1:c.3255+112G>T VV NP_001308786.1:p.=
NM_002227.3:c.3258+112G>T VV NP_002218.2:p.=
NM_002227.4:c.3258+112G>T VV MANE Preferred NP_002218.2:p.=
NM_001321852.2:c.3258+112G>T VV NP_001308781.1:p.=
NM_001321853.2:c.3258+112G>T VV NP_001308782.1:p.=
NM_001321854.2:c.3258+112G>T VV NP_001308783.1:p.=
NM_001321855.2:c.3258+112G>T VV NP_001308784.1:p.=
NM_001321857.2:c.3255+112G>T VV NP_001308786.1:p.=
ENST00000342505.4:c.3258+112G>T ENSP00000343204.4:p.=