Canonical Allele Identifier: CA444399225

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1748221824
• gnomAD v4: 5-56881900-T-C
• MyVariant Identifiers: chr5:g.56177727T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881900T>C , CM000667.2:g.56881900T>C	GRCh38
NC_000005.9:g.56177727T>C , CM000667.1:g.56177727T>C	GRCh37
NC_000005.8:g.56213484T>C	NCBI36
NG_031884.1:g.71828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2700T>C MANE Select	ENSP00000382423.3:p.Ser900=
ENST00000399503.3:c.2700T>C	ENSP00000382423.3:p.Ser900=
NM_005921.1:c.2700T>C	NP_005912.1:p.Ser900=
XM_005248519.3:c.2322T>C	XP_005248576.2:p.Ser774=
XM_011543406.1:c.2445T>C	XP_011541708.1:p.Ser815=
XM_011543407.1:c.2421T>C	XP_011541709.1:p.Ser807=
XM_011543408.1:c.2700T>C	XP_011541710.1:p.Ser900=
XM_017009484.1:c.2289T>C	XP_016864973.1:p.Ser763=
XM_017009485.1:c.2211T>C	XP_016864974.1:p.Ser737=
XR_001742068.2:n.2731T>C
NM_005921.2:c.2700T>C MANE Select	NP_005912.1:p.Ser900=