Canonical Allele Identifier: CA359780918

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1237934071
• gnomAD v2: 5-56171002-T-G
• gnomAD v4: 5-56875175-T-G
• MyVariant Identifiers: chr5:g.56171002T>G (hg19) ; chr5:g.56875175T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875175T>G , CM000667.2:g.56875175T>G	GRCh38
NC_000005.9:g.56171002T>G , CM000667.1:g.56171002T>G	GRCh37
NC_000005.8:g.56206759T>G	NCBI36
NG_031884.1:g.65103T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1830T>G MANE Select	ENSP00000382423.3:p.Ser610Arg
ENST00000399503.3:c.1830T>G	ENSP00000382423.3:p.Ser610Arg
NM_005921.1:c.1830T>G	NP_005912.1:p.Ser610Arg
XM_005248519.3:c.1452T>G	XP_005248576.2:p.Ser484Arg
XM_011543406.1:c.1575T>G	XP_011541708.1:p.Ser525Arg
XM_011543407.1:c.1686+2170T>G	XP_011541709.1:n.1686+2170T>G
XM_011543408.1:c.1830T>G	XP_011541710.1:p.Ser610Arg
XM_017009484.1:c.1419T>G	XP_016864973.1:p.Ser473Arg
XM_017009485.1:c.1341T>G	XP_016864974.1:p.Ser447Arg
XR_001742068.2:n.1861T>G
NM_005921.2:c.1830T>G MANE Select	NP_005912.1:p.Ser610Arg