Canonical Allele Identifier: CA359802476

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155619G>C (hg19) ; chr5:g.56859792G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859792G>C , CM000667.2:g.56859792G>C	GRCh38
NC_000005.9:g.56155619G>C , CM000667.1:g.56155619G>C	GRCh37
NC_000005.8:g.56191376G>C	NCBI36
NG_031884.1:g.49720G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.711G>C MANE Select	ENSP00000382423.3:p.Gln237His
ENST00000399503.3:c.711G>C	ENSP00000382423.3:p.Gln237His
NM_005921.1:c.711G>C	NP_005912.1:p.Gln237His
XM_005248519.3:c.333G>C	XP_005248576.2:p.Gln111His
XM_011543406.1:c.456G>C	XP_011541708.1:p.Gln152His
XM_011543407.1:c.711G>C	XP_011541709.1:p.Gln237His
XM_011543408.1:c.711G>C	XP_011541710.1:p.Gln237His
XM_017009484.1:c.300G>C	XP_016864973.1:p.Gln100His
XM_017009485.1:c.222G>C	XP_016864974.1:p.Gln74His
XR_001742068.2:n.742G>C
NM_005921.2:c.711G>C MANE Select	NP_005912.1:p.Gln237His