Canonical Allele Identifier: CA444399463
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs2111944657
gnomAD v4: 5-56882203-C-T
MyVariant Identifiers: chr5:g.56178030C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56882203C>T , CM000667.2:g.56882203C>T GRCh38
NC_000005.9:g.56178030C>T , CM000667.1:g.56178030C>T GRCh37
NC_000005.8:g.56213787C>T NCBI36
NG_031884.1:g.72131C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.3003C>T MANE Select ENSP00000382423.3:p.Val1001=
ENST00000399503.3:c.3003C>T ENSP00000382423.3:p.Val1001=
NM_005921.1:c.3003C>T NP_005912.1:p.Val1001=
XM_005248519.3:c.2625C>T XP_005248576.2:p.Val875=
XM_011543406.1:c.2748C>T XP_011541708.1:p.Val916=
XM_011543407.1:c.2724C>T XP_011541709.1:p.Val908=
XM_011543408.1:c.3003C>T XP_011541710.1:p.Val1001=
XM_017009484.1:c.2592C>T XP_016864973.1:p.Val864=
XM_017009485.1:c.2514C>T XP_016864974.1:p.Val838=
XR_001742068.2:n.3034C>T
NM_005921.2:c.3003C>T MANE Select NP_005912.1:p.Val1001=