Canonical Allele Identifier: CA353401537

Gene: HESX1

Linked Data

• MyVariant Identifiers: chr3:g.57232941G>T (hg19) ; chr3:g.57198913G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57198913G>T , CM000665.2:g.57198913G>T	GRCh38
NC_000003.11:g.57232941G>T , CM000665.1:g.57232941G>T	GRCh37
NC_000003.10:g.57207981G>T	NCBI36
NG_008242.1:g.6340C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295934.8:c.197C>A MANE Select	ENSP00000295934.3:p.Pro66His
ENST00000647958.1:c.197C>A	ENSP00000498190.1:p.Pro66His
ENST00000295934.7:c.197C>A	ENSP00000295934.3:p.Pro66His
ENST00000473921.2:c.197C>A	ENSP00000418918.1:p.Pro66His
ENST00000495160.2:c.197C>A	ENSP00000419615.2:p.Pro66His
NM_003865.2:c.197C>A	NP_003856.1:p.Pro66His
XM_005265526.3:c.197C>A	XP_005265583.1:p.Pro66His
XM_006713379.2:c.197C>A	XP_006713442.1:p.Pro66His
XM_011534204.1:c.197C>A	XP_011532506.1:p.Pro66His
XM_011534205.1:c.197C>A	XP_011532507.1:p.Pro66His
XM_005265526.4:c.197C>A	XP_005265583.1:p.Pro66His
XM_011534204.2:c.197C>A	XP_011532506.1:p.Pro66His
XM_011534205.2:c.197C>A	XP_011532507.1:p.Pro66His
XM_017007421.1:c.197C>A	XP_016862910.1:p.Pro66His
XM_024453809.1:c.197C>A	XP_024309577.1:p.Pro66His
NM_003865.3:c.197C>A MANE Select	NP_003856.1:p.Pro66His
NM_001376058.1:c.197C>A	NP_001362987.1:p.Pro66His
NM_001376059.1:c.197C>A	NP_001362988.1:p.Pro66His
NM_001376060.1:c.197C>A	NP_001362989.1:p.Pro66His
NM_001376061.1:c.197C>A	NP_001362990.1:p.Pro66His
NR_164757.1:n.851-421C>A