Canonical Allele Identifier: CA359786165

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881810-G-T
• MyVariant Identifiers: chr5:g.56177637G>T (hg19) ; chr5:g.56881810G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881810G>T , CM000667.2:g.56881810G>T	GRCh38
NC_000005.9:g.56177637G>T , CM000667.1:g.56177637G>T	GRCh37
NC_000005.8:g.56213394G>T	NCBI36
NG_031884.1:g.71738G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2610G>T MANE Select	ENSP00000382423.3:p.Gln870His
ENST00000399503.3:c.2610G>T	ENSP00000382423.3:p.Gln870His
NM_005921.1:c.2610G>T	NP_005912.1:p.Gln870His
XM_005248519.3:c.2232G>T	XP_005248576.2:p.Gln744His
XM_011543406.1:c.2355G>T	XP_011541708.1:p.Gln785His
XM_011543407.1:c.2331G>T	XP_011541709.1:p.Gln777His
XM_011543408.1:c.2610G>T	XP_011541710.1:p.Gln870His
XM_017009484.1:c.2199G>T	XP_016864973.1:p.Gln733His
XM_017009485.1:c.2121G>T	XP_016864974.1:p.Gln707His
XR_001742068.2:n.2641G>T
NM_005921.2:c.2610G>T MANE Select	NP_005912.1:p.Gln870His