Canonical Allele Identifier: CA3273043

Gene: MAP3K1

Linked Data

• dbSNP Id: rs774025144
• ExAC: 5:56177701 A / G
• gnomAD v2: 5-56177701-A-G
• gnomAD v4: 5-56881874-A-G
• MyVariant Identifiers: chr5:g.56177701A>G (hg19) ; chr5:g.56881874A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881874A>G , CM000667.2:g.56881874A>G	GRCh38
NC_000005.9:g.56177701A>G , CM000667.1:g.56177701A>G	GRCh37
NC_000005.8:g.56213458A>G	NCBI36
NG_031884.1:g.71802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2674A>G MANE Select	ENSP00000382423.3:p.Asn892Asp
ENST00000399503.3:c.2674A>G	ENSP00000382423.3:p.Asn892Asp
NM_005921.1:c.2674A>G	NP_005912.1:p.Asn892Asp
XM_005248519.3:c.2296A>G	XP_005248576.2:p.Asn766Asp
XM_011543406.1:c.2419A>G	XP_011541708.1:p.Asn807Asp
XM_011543407.1:c.2395A>G	XP_011541709.1:p.Asn799Asp
XM_011543408.1:c.2674A>G	XP_011541710.1:p.Asn892Asp
XM_017009484.1:c.2263A>G	XP_016864973.1:p.Asn755Asp
XM_017009485.1:c.2185A>G	XP_016864974.1:p.Asn729Asp
XR_001742068.2:n.2705A>G
NM_005921.2:c.2674A>G MANE Select	NP_005912.1:p.Asn892Asp