Canonical Allele Identifier: CA359802486

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155624G>C (hg19) ; chr5:g.56859797G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.716G>C MANE Select	ENSP00000382423.3:p.Ser239Thr
ENST00000399503.3:c.716G>C	ENSP00000382423.3:p.Ser239Thr
NM_005921.1:c.716G>C	NP_005912.1:p.Ser239Thr
XM_005248519.3:c.338G>C	XP_005248576.2:p.Ser113Thr
XM_011543406.1:c.461G>C	XP_011541708.1:p.Ser154Thr
XM_011543407.1:c.716G>C	XP_011541709.1:p.Ser239Thr
XM_011543408.1:c.716G>C	XP_011541710.1:p.Ser239Thr
XM_017009484.1:c.305G>C	XP_016864973.1:p.Ser102Thr
XM_017009485.1:c.227G>C	XP_016864974.1:p.Ser76Thr
XR_001742068.2:n.747G>C
NM_005921.2:c.716G>C MANE Select	NP_005912.1:p.Ser239Thr