Canonical Allele Identifier: CA119520085

Gene: MAP3K1

Linked Data

• dbSNP Id: rs971628927
• gnomAD v3: 5-56859792-G-A
• gnomAD v4: 5-56859792-G-A
• MyVariant Identifiers: chr5:g.56155619G>A (hg19) ; chr5:g.56859792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859792G>A , CM000667.2:g.56859792G>A	GRCh38
NC_000005.9:g.56155619G>A , CM000667.1:g.56155619G>A	GRCh37
NC_000005.8:g.56191376G>A	NCBI36
NG_031884.1:g.49720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.711G>A MANE Select	ENSP00000382423.3:p.Gln237=
ENST00000399503.3:c.711G>A	ENSP00000382423.3:p.Gln237=
NM_005921.1:c.711G>A	NP_005912.1:p.Gln237=
XM_005248519.3:c.333G>A	XP_005248576.2:p.Gln111=
XM_011543406.1:c.456G>A	XP_011541708.1:p.Gln152=
XM_011543407.1:c.711G>A	XP_011541709.1:p.Gln237=
XM_011543408.1:c.711G>A	XP_011541710.1:p.Gln237=
XM_017009484.1:c.300G>A	XP_016864973.1:p.Gln100=
XM_017009485.1:c.222G>A	XP_016864974.1:p.Gln74=
XR_001742068.2:n.742G>A
NM_005921.2:c.711G>A MANE Select	NP_005912.1:p.Gln237=