Canonical Allele Identifier: CA351237481

Gene: HES6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238239103C>T , CM000664.2:g.238239103C>T	GRCh38
NC_000002.11:g.239147744C>T , CM000664.1:g.239147744C>T	GRCh37
NC_000002.10:g.238812483C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018645.6:c.399G>A MANE Select	NP_061115.2:p.Met133Ile
ENST00000272937.10:c.399G>A MANE Select	ENSP00000272937.5:p.Met133Ile
NM_001142853.2:c.393G>A	NP_001136325.1:p.Met131Ile
NM_001142853.3:c.393G>A	NP_001136325.1:p.Met131Ile
NM_001282434.1:c.*20G>A	NP_001269363.1:n.*20G>A
NM_001282434.2:c.*20G>A	NP_001269363.1:n.*20G>A
NM_018645.5:c.399G>A	NP_061115.2:p.Met133Ile
ENST00000272937.9:c.399G>A	ENSP00000272937.5:p.Met133Ile
ENST00000409002.7:c.393G>A	ENSP00000387155.3:p.Met131Ile
ENST00000409160.7:c.634G>A	ENSP00000387215.3:p.Ala212Thr
ENST00000409182.1:c.312G>A	ENSP00000387343.1:p.Met104Ile
ENST00000409574.1:c.*20G>A	ENSP00000387008.1:n.*20G>A
ENST00000417803.5:c.147G>A	ENSP00000401797.1:n.147G>A