Canonical Allele Identifier: CA359786322

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881871-A-C
• MyVariant Identifiers: chr5:g.56177698A>C (hg19) ; chr5:g.56881871A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881871A>C , CM000667.2:g.56881871A>C	GRCh38
NC_000005.9:g.56177698A>C , CM000667.1:g.56177698A>C	GRCh37
NC_000005.8:g.56213455A>C	NCBI36
NG_031884.1:g.71799A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2671A>C MANE Select	ENSP00000382423.3:p.Asn891His
ENST00000399503.3:c.2671A>C	ENSP00000382423.3:p.Asn891His
NM_005921.1:c.2671A>C	NP_005912.1:p.Asn891His
XM_005248519.3:c.2293A>C	XP_005248576.2:p.Asn765His
XM_011543406.1:c.2416A>C	XP_011541708.1:p.Asn806His
XM_011543407.1:c.2392A>C	XP_011541709.1:p.Asn798His
XM_011543408.1:c.2671A>C	XP_011541710.1:p.Asn891His
XM_017009484.1:c.2260A>C	XP_016864973.1:p.Asn754His
XM_017009485.1:c.2182A>C	XP_016864974.1:p.Asn728His
XR_001742068.2:n.2702A>C
NM_005921.2:c.2671A>C MANE Select	NP_005912.1:p.Asn891His