Canonical Allele Identifier: CA272746534

Gene: STRA6

Linked Data

• ClinVar Variation Id: 3030948
• ClinVar RCV Id: RCV003894099
• dbSNP Id: rs201008326
• gnomAD v4: 15-74180783-T-A
• MyVariant Identifiers: chr15:g.74473124T>A (hg19) ; chr15:g.74180783T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74180783T>A , CM000677.2:g.74180783T>A	GRCh38
NC_000015.9:g.74473124T>A , CM000677.1:g.74473124T>A	GRCh37
NC_000015.8:g.72260177T>A	NCBI36
NG_009207.1:g.33248A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395105.9:c.1839A>T MANE Select	ENSP00000378537.4:p.Glu613Asp
ENST00000323940.9:c.1839A>T	ENSP00000326085.5:p.Glu613Asp
ENST00000395105.8:c.1839A>T	ENSP00000378537.4:p.Glu613Asp
ENST00000416286.7:c.1815A>T	ENSP00000400403.3:p.Glu605Asp
ENST00000423167.6:c.1812A>T	ENSP00000413012.2:p.Glu604Asp
ENST00000449139.6:c.1839A>T	ENSP00000410221.2:p.Glu613Asp
ENST00000535552.5:c.1950A>T	ENSP00000440238.1:p.Glu650Asp
ENST00000545137.5:n.1548A>T
ENST00000563965.5:c.1956A>T	ENSP00000456609.1:p.Glu652Asp
ENST00000572785.1:c.694A>T
ENST00000574278.5:c.1884A>T	ENSP00000458827.1:p.Glu628Asp
ENST00000574439.5:n.2111A>T
ENST00000616000.4:c.1839A>T	ENSP00000479112.1:p.Glu613Asp
NM_001142617.1:c.1839A>T	NP_001136089.1:p.Glu613Asp
NM_001142618.1:c.1839A>T	NP_001136090.1:p.Glu613Asp
NM_001142619.1:c.1812A>T	NP_001136091.1:p.Glu604Asp
NM_001199040.1:c.1950A>T	NP_001185969.1:p.Glu650Asp
NM_001199041.1:c.1884A>T	NP_001185970.1:p.Glu628Asp
NM_001199042.1:c.1956A>T	NP_001185971.1:p.Glu652Asp
NM_022369.3:c.1839A>T	NP_071764.3:p.Glu613Asp
XM_011521883.1:c.1839A>T	XP_011520185.1:p.Glu613Asp
XM_011521884.1:c.1650A>T	XP_011520186.1:p.Glu550Asp
XM_017022478.1:c.1887A>T	XP_016877967.1:p.Glu629Asp
XM_017022479.1:c.1839A>T	XP_016877968.1:p.Glu613Asp
XM_017022480.1:c.1650A>T	XP_016877969.1:p.Glu550Asp
NM_022369.4:c.1839A>T MANE Select	NP_071764.3:p.Glu613Asp
NM_001142617.2:c.1839A>T	NP_001136089.1:p.Glu613Asp
NM_001142619.2:c.1812A>T	NP_001136091.1:p.Glu604Asp
NM_001199042.2:c.1956A>T	NP_001185971.1:p.Glu652Asp
NM_001142618.2:c.1839A>T	NP_001136090.1:p.Glu613Asp
NM_001199040.2:c.1950A>T	NP_001185969.1:p.Glu650Asp
NM_001199041.2:c.1884A>T	NP_001185970.1:p.Glu628Asp