Canonical Allele Identifier: CA393128313

Gene: STRA6

Linked Data

• ClinVar Variation Id: 591313
• ClinVar RCV Id: RCV000722491
• dbSNP Id: rs1567175757
• gnomAD v4: 15-74180167-C-T
• COSMIC: COSM3503847 ; COSM4533966
• MyVariant Identifiers: chr15:g.74472508C>T (hg19) ; chr15:g.74180167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74180167C>T , CM000677.2:g.74180167C>T	GRCh38
NC_000015.9:g.74472508C>T , CM000677.1:g.74472508C>T	GRCh37
NC_000015.8:g.72259561C>T	NCBI36
NG_009207.1:g.33864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395105.9:c.1917G>A MANE Select	ENSP00000378537.4:p.Trp639Ter
ENST00000323940.9:c.1917G>A	ENSP00000326085.5:p.Trp639Ter
ENST00000395105.8:c.1917G>A	ENSP00000378537.4:p.Trp639Ter
ENST00000416286.7:c.1893G>A	ENSP00000400403.3:p.Trp631Ter
ENST00000423167.6:c.1890G>A	ENSP00000413012.2:p.Trp630Ter
ENST00000449139.6:c.1917G>A	ENSP00000410221.2:p.Trp639Ter
ENST00000535552.5:c.2028G>A	ENSP00000440238.1:p.Trp676Ter
ENST00000545137.5:n.1626G>A
ENST00000563965.5:c.2034G>A	ENSP00000456609.1:p.Trp678Ter
ENST00000572785.1:c.772G>A
ENST00000574278.5:c.1962G>A	ENSP00000458827.1:p.Trp654Ter
ENST00000574439.5:n.2189G>A
ENST00000616000.4:c.1917G>A	ENSP00000479112.1:p.Trp639Ter
NM_001142617.1:c.1917G>A	NP_001136089.1:p.Trp639Ter
NM_001142618.1:c.1917G>A	NP_001136090.1:p.Trp639Ter
NM_001142619.1:c.1890G>A	NP_001136091.1:p.Trp630Ter
NM_001199040.1:c.2028G>A	NP_001185969.1:p.Trp676Ter
NM_001199041.1:c.1962G>A	NP_001185970.1:p.Trp654Ter
NM_001199042.1:c.2034G>A	NP_001185971.1:p.Trp678Ter
NM_022369.3:c.1917G>A	NP_071764.3:p.Trp639Ter
XM_011521883.1:c.1917G>A	XP_011520185.1:p.Trp639Ter
XM_011521884.1:c.1728G>A	XP_011520186.1:p.Trp576Ter
XM_017022478.1:c.1965G>A	XP_016877967.1:p.Trp655Ter
XM_017022479.1:c.1917G>A	XP_016877968.1:p.Trp639Ter
XM_017022480.1:c.1728G>A	XP_016877969.1:p.Trp576Ter
NM_022369.4:c.1917G>A MANE Select	NP_071764.3:p.Trp639Ter
NM_001142617.2:c.1917G>A	NP_001136089.1:p.Trp639Ter
NM_001142619.2:c.1890G>A	NP_001136091.1:p.Trp630Ter
NM_001199042.2:c.2034G>A	NP_001185971.1:p.Trp678Ter
NM_001142618.2:c.1917G>A	NP_001136090.1:p.Trp639Ter
NM_001199040.2:c.2028G>A	NP_001185969.1:p.Trp676Ter
NM_001199041.2:c.1962G>A	NP_001185970.1:p.Trp654Ter