Canonical Allele Identifier: CA359781030

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56875198-C-A
• MyVariant Identifiers: chr5:g.56171025C>A (hg19) ; chr5:g.56875198C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875198C>A , CM000667.2:g.56875198C>A	GRCh38
NC_000005.9:g.56171025C>A , CM000667.1:g.56171025C>A	GRCh37
NC_000005.8:g.56206782C>A	NCBI36
NG_031884.1:g.65126C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1853C>A MANE Select	ENSP00000382423.3:p.Ala618Asp
ENST00000399503.3:c.1853C>A	ENSP00000382423.3:p.Ala618Asp
NM_005921.1:c.1853C>A	NP_005912.1:p.Ala618Asp
XM_005248519.3:c.1475C>A	XP_005248576.2:p.Ala492Asp
XM_011543406.1:c.1598C>A	XP_011541708.1:p.Ala533Asp
XM_011543407.1:c.1686+2193C>A	XP_011541709.1:n.1686+2193C>A
XM_011543408.1:c.1853C>A	XP_011541710.1:p.Ala618Asp
XM_017009484.1:c.1442C>A	XP_016864973.1:p.Ala481Asp
XM_017009485.1:c.1364C>A	XP_016864974.1:p.Ala455Asp
XR_001742068.2:n.1884C>A
NM_005921.2:c.1853C>A MANE Select	NP_005912.1:p.Ala618Asp