Canonical Allele Identifier: CA444391714
Gene: MAP3K1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.56155652A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859825A>T , CM000667.2:g.56859825A>T GRCh38
NC_000005.9:g.56155652A>T , CM000667.1:g.56155652A>T GRCh37
NC_000005.8:g.56191409A>T NCBI36
NG_031884.1:g.49753A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.744A>T MANE Select ENSP00000382423.3:p.Arg248=
ENST00000399503.3:c.744A>T ENSP00000382423.3:p.Arg248=
NM_005921.1:c.744A>T NP_005912.1:p.Arg248=
XM_005248519.3:c.366A>T XP_005248576.2:p.Arg122=
XM_011543406.1:c.489A>T XP_011541708.1:p.Arg163=
XM_011543407.1:c.744A>T XP_011541709.1:p.Arg248=
XM_011543408.1:c.744A>T XP_011541710.1:p.Arg248=
XM_017009484.1:c.333A>T XP_016864973.1:p.Arg111=
XM_017009485.1:c.255A>T XP_016864974.1:p.Arg85=
XR_001742068.2:n.775A>T
NM_005921.2:c.744A>T MANE Select NP_005912.1:p.Arg248=