Canonical Allele Identifier: CA359802594

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859853-T-G
• MyVariant Identifiers: chr5:g.56155680T>G (hg19) ; chr5:g.56859853T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859853T>G , CM000667.2:g.56859853T>G	GRCh38
NC_000005.9:g.56155680T>G , CM000667.1:g.56155680T>G	GRCh37
NC_000005.8:g.56191437T>G	NCBI36
NG_031884.1:g.49781T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.772T>G MANE Select	ENSP00000382423.3:p.Ser258Ala
ENST00000399503.3:c.772T>G	ENSP00000382423.3:p.Ser258Ala
NM_005921.1:c.772T>G	NP_005912.1:p.Ser258Ala
XM_005248519.3:c.394T>G	XP_005248576.2:p.Ser132Ala
XM_011543406.1:c.517T>G	XP_011541708.1:p.Ser173Ala
XM_011543407.1:c.772T>G	XP_011541709.1:p.Ser258Ala
XM_011543408.1:c.772T>G	XP_011541710.1:p.Ser258Ala
XM_017009484.1:c.361T>G	XP_016864973.1:p.Ser121Ala
XM_017009485.1:c.283T>G	XP_016864974.1:p.Ser95Ala
XR_001742068.2:n.803T>G
NM_005921.2:c.772T>G MANE Select	NP_005912.1:p.Ser258Ala