Canonical Allele Identifier: CA359786021

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1448250080
• gnomAD v2: 5-56177569-C-G
• MyVariant Identifiers: chr5:g.56177569C>G (hg19) ; chr5:g.56881742C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881742C>G , CM000667.2:g.56881742C>G	GRCh38
NC_000005.9:g.56177569C>G , CM000667.1:g.56177569C>G	GRCh37
NC_000005.8:g.56213326C>G	NCBI36
NG_031884.1:g.71670C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2542C>G MANE Select	ENSP00000382423.3:p.His848Asp
ENST00000399503.3:c.2542C>G	ENSP00000382423.3:p.His848Asp
NM_005921.1:c.2542C>G	NP_005912.1:p.His848Asp
XM_005248519.3:c.2164C>G	XP_005248576.2:p.His722Asp
XM_011543406.1:c.2287C>G	XP_011541708.1:p.His763Asp
XM_011543407.1:c.2263C>G	XP_011541709.1:p.His755Asp
XM_011543408.1:c.2542C>G	XP_011541710.1:p.His848Asp
XM_017009484.1:c.2131C>G	XP_016864973.1:p.His711Asp
XM_017009485.1:c.2053C>G	XP_016864974.1:p.His685Asp
XR_001742068.2:n.2573C>G
NM_005921.2:c.2542C>G MANE Select	NP_005912.1:p.His848Asp