Canonical Allele Identifier: CA2463250

Gene: HESX1

Linked Data

• ClinVar Variation Id: 267733
• ClinVar RCV Id: RCV000258196 ; RCV000584901 ; RCV000583982 ; RCV001317207 ; RCV001849354 ; RCV003947822
• dbSNP Id: rs143057250
• ExAC: 3:57232493 C / T
• gnomAD v2: 3-57232493-C-T
• gnomAD v3: 3-57198465-C-T
• gnomAD v4: 3-57198465-C-T
• MyVariant Identifiers: chr3:g.57232493C>T (hg19) ; chr3:g.57198465C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57198465C>T , CM000665.2:g.57198465C>T	GRCh38
NC_000003.11:g.57232493C>T , CM000665.1:g.57232493C>T	GRCh37
NC_000003.10:g.57207533C>T	NCBI36
NG_008242.1:g.6788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295934.8:c.385G>A MANE Select	ENSP00000295934.3:p.Val129Ile
ENST00000647958.1:c.385G>A	ENSP00000498190.1:p.Val129Ile
ENST00000295934.7:c.385G>A	ENSP00000295934.3:p.Val129Ile
ENST00000473921.2:c.358-170G>A	ENSP00000418918.1:n.358-170G>A
NM_003865.2:c.385G>A	NP_003856.1:p.Val129Ile
XM_005265526.3:c.385G>A	XP_005265583.1:p.Val129Ile
XM_006713379.2:c.385G>A	XP_006713442.1:p.Val129Ile
XM_011534204.1:c.385G>A	XP_011532506.1:p.Val129Ile
XM_011534205.1:c.385G>A	XP_011532507.1:p.Val129Ile
XM_005265526.4:c.385G>A	XP_005265583.1:p.Val129Ile
XM_011534204.2:c.385G>A	XP_011532506.1:p.Val129Ile
XM_011534205.2:c.385G>A	XP_011532507.1:p.Val129Ile
XM_017007421.1:c.385G>A	XP_016862910.1:p.Val129Ile
XM_024453809.1:c.385G>A	XP_024309577.1:p.Val129Ile
NM_003865.3:c.385G>A MANE Select	NP_003856.1:p.Val129Ile
NM_001376058.1:c.385G>A	NP_001362987.1:p.Val129Ile
NM_001376059.1:c.385G>A	NP_001362988.1:p.Val129Ile
NM_001376060.1:c.385G>A	NP_001362989.1:p.Val129Ile
NM_001376061.1:c.385G>A	NP_001362990.1:p.Val129Ile
NR_164757.1:n.878G>A