Canonical Allele Identifier: CA359802400

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859757-A-G
• MyVariant Identifiers: chr5:g.56155584A>G (hg19) ; chr5:g.56859757A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859757A>G , CM000667.2:g.56859757A>G	GRCh38
NC_000005.9:g.56155584A>G , CM000667.1:g.56155584A>G	GRCh37
NC_000005.8:g.56191341A>G	NCBI36
NG_031884.1:g.49685A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.676A>G MANE Select	ENSP00000382423.3:p.Asn226Asp
ENST00000399503.3:c.676A>G	ENSP00000382423.3:p.Asn226Asp
NM_005921.1:c.676A>G	NP_005912.1:p.Asn226Asp
XM_005248519.3:c.298A>G	XP_005248576.2:p.Asn100Asp
XM_011543406.1:c.421A>G	XP_011541708.1:p.Asn141Asp
XM_011543407.1:c.676A>G	XP_011541709.1:p.Asn226Asp
XM_011543408.1:c.676A>G	XP_011541710.1:p.Asn226Asp
XM_017009484.1:c.265A>G	XP_016864973.1:p.Asn89Asp
XM_017009485.1:c.187A>G	XP_016864974.1:p.Asn63Asp
XR_001742068.2:n.707A>G
NM_005921.2:c.676A>G MANE Select	NP_005912.1:p.Asn226Asp