Canonical Allele Identifier: CA359780941

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111921039
• gnomAD v4: 5-56875180-G-A
• MyVariant Identifiers: chr5:g.56171007G>A (hg19) ; chr5:g.56875180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875180G>A , CM000667.2:g.56875180G>A	GRCh38
NC_000005.9:g.56171007G>A , CM000667.1:g.56171007G>A	GRCh37
NC_000005.8:g.56206764G>A	NCBI36
NG_031884.1:g.65108G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1835G>A MANE Select	ENSP00000382423.3:p.Ser612Asn
ENST00000399503.3:c.1835G>A	ENSP00000382423.3:p.Ser612Asn
NM_005921.1:c.1835G>A	NP_005912.1:p.Ser612Asn
XM_005248519.3:c.1457G>A	XP_005248576.2:p.Ser486Asn
XM_011543406.1:c.1580G>A	XP_011541708.1:p.Ser527Asn
XM_011543407.1:c.1686+2175G>A	XP_011541709.1:n.1686+2175G>A
XM_011543408.1:c.1835G>A	XP_011541710.1:p.Ser612Asn
XM_017009484.1:c.1424G>A	XP_016864973.1:p.Ser475Asn
XM_017009485.1:c.1346G>A	XP_016864974.1:p.Ser449Asn
XR_001742068.2:n.1866G>A
NM_005921.2:c.1835G>A MANE Select	NP_005912.1:p.Ser612Asn