Canonical Allele Identifier: CA359780906

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56875173-A-C
• MyVariant Identifiers: chr5:g.56171000A>C (hg19) ; chr5:g.56875173A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875173A>C , CM000667.2:g.56875173A>C	GRCh38
NC_000005.9:g.56171000A>C , CM000667.1:g.56171000A>C	GRCh37
NC_000005.8:g.56206757A>C	NCBI36
NG_031884.1:g.65101A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1828A>C MANE Select	ENSP00000382423.3:p.Ser610Arg
ENST00000399503.3:c.1828A>C	ENSP00000382423.3:p.Ser610Arg
NM_005921.1:c.1828A>C	NP_005912.1:p.Ser610Arg
XM_005248519.3:c.1450A>C	XP_005248576.2:p.Ser484Arg
XM_011543406.1:c.1573A>C	XP_011541708.1:p.Ser525Arg
XM_011543407.1:c.1686+2168A>C	XP_011541709.1:n.1686+2168A>C
XM_011543408.1:c.1828A>C	XP_011541710.1:p.Ser610Arg
XM_017009484.1:c.1417A>C	XP_016864973.1:p.Ser473Arg
XM_017009485.1:c.1339A>C	XP_016864974.1:p.Ser447Arg
XR_001742068.2:n.1859A>C
NM_005921.2:c.1828A>C MANE Select	NP_005912.1:p.Ser610Arg