Canonical Allele Identifier: CA359787880

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1440156563
• gnomAD v2: 5-56178230-G-C
• gnomAD v4: 5-56882403-G-C
• MyVariant Identifiers: chr5:g.56178230G>C (hg19) ; chr5:g.56882403G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882403G>C , CM000667.2:g.56882403G>C	GRCh38
NC_000005.9:g.56178230G>C , CM000667.1:g.56178230G>C	GRCh37
NC_000005.8:g.56213987G>C	NCBI36
NG_031884.1:g.72331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3203G>C MANE Select	ENSP00000382423.3:p.Gly1068Ala
ENST00000399503.3:c.3203G>C	ENSP00000382423.3:p.Gly1068Ala
NM_005921.1:c.3203G>C	NP_005912.1:p.Gly1068Ala
XM_005248519.3:c.2825G>C	XP_005248576.2:p.Gly942Ala
XM_011543406.1:c.2948G>C	XP_011541708.1:p.Gly983Ala
XM_011543407.1:c.2924G>C	XP_011541709.1:p.Gly975Ala
XM_011543408.1:c.3203G>C	XP_011541710.1:p.Gly1068Ala
XM_017009484.1:c.2792G>C	XP_016864973.1:p.Gly931Ala
XM_017009485.1:c.2714G>C	XP_016864974.1:p.Gly905Ala
XR_001742068.2:n.3234G>C
NM_005921.2:c.3203G>C MANE Select	NP_005912.1:p.Gly1068Ala