Canonical Allele Identifier: CA7654768

Gene: STRA6

Linked Data

• ClinVar Variation Id: 772765
• ClinVar RCV Id: RCV000952396 ; RCV001528668 ; RCV003978231
• dbSNP Id: rs139450204
• ExAC: 15:74483206 G / A
• gnomAD v2: 15-74483206-G-A
• gnomAD v3: 15-74190865-G-A
• gnomAD v4: 15-74190865-G-A
• MyVariant Identifiers: chr15:g.74483206G>A (hg19) ; chr15:g.74190865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74190865G>A , CM000677.2:g.74190865G>A	GRCh38
NC_000015.9:g.74483206G>A , CM000677.1:g.74483206G>A	GRCh37
NC_000015.8:g.72270259G>A	NCBI36
NG_009207.1:g.23166C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395105.9:c.902C>T MANE Select	ENSP00000378537.4:p.Thr301Ile
ENST00000323940.9:c.902C>T	ENSP00000326085.5:p.Thr301Ile
ENST00000395105.8:c.902C>T	ENSP00000378537.4:p.Thr301Ile
ENST00000416286.7:c.878C>T	ENSP00000400403.3:p.Thr293Ile
ENST00000423167.6:c.875C>T	ENSP00000413012.2:p.Thr292Ile
ENST00000449139.6:c.902C>T	ENSP00000410221.2:p.Thr301Ile
ENST00000535552.5:c.1013C>T	ENSP00000440238.1:p.Thr338Ile
ENST00000545137.5:n.611C>T
ENST00000563965.5:c.1019C>T	ENSP00000456609.1:p.Thr340Ile
ENST00000569936.5:c.1032C>T	ENSP00000461799.1:p.Tyr344=
ENST00000574278.5:c.947C>T	ENSP00000458827.1:p.Thr316Ile
ENST00000574439.5:n.1174C>T
ENST00000616000.4:c.902C>T	ENSP00000479112.1:p.Thr301Ile
NM_001142617.1:c.902C>T	NP_001136089.1:p.Thr301Ile
NM_001142618.1:c.902C>T	NP_001136090.1:p.Thr301Ile
NM_001142619.1:c.875C>T	NP_001136091.1:p.Thr292Ile
NM_001199040.1:c.1013C>T	NP_001185969.1:p.Thr338Ile
NM_001199041.1:c.947C>T	NP_001185970.1:p.Thr316Ile
NM_001199042.1:c.1019C>T	NP_001185971.1:p.Thr340Ile
NM_022369.3:c.902C>T	NP_071764.3:p.Thr301Ile
XM_011521883.1:c.902C>T	XP_011520185.1:p.Thr301Ile
XM_011521884.1:c.713C>T	XP_011520186.1:p.Thr238Ile
XM_011521885.1:c.1019C>T	XP_011520187.1:p.Thr340Ile
XR_931877.1:n.1025C>T
XM_011521885.2:c.1019C>T	XP_011520187.1:p.Thr340Ile
XM_017022478.1:c.950C>T	XP_016877967.1:p.Thr317Ile
XM_017022479.1:c.902C>T	XP_016877968.1:p.Thr301Ile
XM_017022480.1:c.713C>T	XP_016877969.1:p.Thr238Ile
XR_931877.2:n.1025C>T
NM_022369.4:c.902C>T MANE Select	NP_071764.3:p.Thr301Ile
NM_001142617.2:c.902C>T	NP_001136089.1:p.Thr301Ile
NM_001142619.2:c.875C>T	NP_001136091.1:p.Thr292Ile
NM_001199042.2:c.1019C>T	NP_001185971.1:p.Thr340Ile
NM_001142618.2:c.902C>T	NP_001136090.1:p.Thr301Ile
NM_001199040.2:c.1013C>T	NP_001185969.1:p.Thr338Ile
NM_001199041.2:c.947C>T	NP_001185970.1:p.Thr316Ile