Canonical Allele Identifier: CA119520088

Gene: MAP3K1

Linked Data

• dbSNP Id: rs375585118
• gnomAD v2: 5-56155624-G-T
• gnomAD v3: 5-56859797-G-T
• gnomAD v4: 5-56859797-G-T
• MyVariant Identifiers: chr5:g.56155624G>T (hg19) ; chr5:g.56859797G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859797G>T , CM000667.2:g.56859797G>T	GRCh38
NC_000005.9:g.56155624G>T , CM000667.1:g.56155624G>T	GRCh37
NC_000005.8:g.56191381G>T	NCBI36
NG_031884.1:g.49725G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.716G>T MANE Select	ENSP00000382423.3:p.Ser239Ile
ENST00000399503.3:c.716G>T	ENSP00000382423.3:p.Ser239Ile
NM_005921.1:c.716G>T	NP_005912.1:p.Ser239Ile
XM_005248519.3:c.338G>T	XP_005248576.2:p.Ser113Ile
XM_011543406.1:c.461G>T	XP_011541708.1:p.Ser154Ile
XM_011543407.1:c.716G>T	XP_011541709.1:p.Ser239Ile
XM_011543408.1:c.716G>T	XP_011541710.1:p.Ser239Ile
XM_017009484.1:c.305G>T	XP_016864973.1:p.Ser102Ile
XM_017009485.1:c.227G>T	XP_016864974.1:p.Ser76Ile
XR_001742068.2:n.747G>T
NM_005921.2:c.716G>T MANE Select	NP_005912.1:p.Ser239Ile