Canonical Allele Identifier: CA119079184

Gene: MAP3K1

Linked Data

• dbSNP Id: rs375893442
• gnomAD v2: 5-56177591-G-A
• gnomAD v3: 5-56881764-G-A
• gnomAD v4: 5-56881764-G-A
• MyVariant Identifiers: chr5:g.56177591G>A (hg19) ; chr5:g.56881764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881764G>A , CM000667.2:g.56881764G>A	GRCh38
NC_000005.9:g.56177591G>A , CM000667.1:g.56177591G>A	GRCh37
NC_000005.8:g.56213348G>A	NCBI36
NG_031884.1:g.71692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2564G>A MANE Select	ENSP00000382423.3:p.Arg855His
ENST00000399503.3:c.2564G>A	ENSP00000382423.3:p.Arg855His
NM_005921.1:c.2564G>A	NP_005912.1:p.Arg855His
XM_005248519.3:c.2186G>A	XP_005248576.2:p.Arg729His
XM_011543406.1:c.2309G>A	XP_011541708.1:p.Arg770His
XM_011543407.1:c.2285G>A	XP_011541709.1:p.Arg762His
XM_011543408.1:c.2564G>A	XP_011541710.1:p.Arg855His
XM_017009484.1:c.2153G>A	XP_016864973.1:p.Arg718His
XM_017009485.1:c.2075G>A	XP_016864974.1:p.Arg692His
XR_001742068.2:n.2595G>A
NM_005921.2:c.2564G>A MANE Select	NP_005912.1:p.Arg855His