Canonical Allele Identifier: CA7654368
Gene: STRA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 464033
ClinVar RCV Id: RCV000559820
dbSNP Id: rs147077716

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74180083G>A , CM000677.2:g.74180083G>A GRCh38
NC_000015.9:g.74472424G>A , CM000677.1:g.74472424G>A GRCh37
NC_000015.8:g.72259477G>A NCBI36
NG_009207.1:g.33948C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395105.9:c.2001C>T MANE Select ENSP00000378537.4:p.Pro667=
ENST00000323940.9:c.2001C>T ENSP00000326085.5:p.Pro667=
ENST00000395105.8:c.2001C>T ENSP00000378537.4:p.Pro667=
ENST00000416286.7:c.1977C>T ENSP00000400403.3:p.Pro659=
ENST00000423167.6:c.1974C>T ENSP00000413012.2:p.Pro658=
ENST00000449139.6:c.2001C>T ENSP00000410221.2:p.Pro667=
ENST00000535552.5:c.2112C>T ENSP00000440238.1:p.Pro704=
ENST00000545137.5:n.1710C>T
ENST00000563965.5:c.2118C>T ENSP00000456609.1:p.Pro706=
ENST00000574278.5:c.2046C>T ENSP00000458827.1:p.Pro682=
ENST00000574439.5:n.2273C>T
ENST00000616000.4:c.2001C>T ENSP00000479112.1:p.Pro667=
NM_001142617.1:c.2001C>T NP_001136089.1:p.Pro667=
NM_001142618.1:c.2001C>T NP_001136090.1:p.Pro667=
NM_001142619.1:c.1974C>T NP_001136091.1:p.Pro658=
NM_001199040.1:c.2112C>T NP_001185969.1:p.Pro704=
NM_001199041.1:c.2046C>T NP_001185970.1:p.Pro682=
NM_001199042.1:c.2118C>T NP_001185971.1:p.Pro706=
NM_022369.3:c.2001C>T NP_071764.3:p.Pro667=
XM_011521883.1:c.2001C>T XP_011520185.1:p.Pro667=
XM_011521884.1:c.1812C>T XP_011520186.1:p.Pro604=
XM_017022478.1:c.2049C>T XP_016877967.1:p.Pro683=
XM_017022479.1:c.2001C>T XP_016877968.1:p.Pro667=
XM_017022480.1:c.1812C>T XP_016877969.1:p.Pro604=
NM_022369.4:c.2001C>T MANE Select NP_071764.3:p.Pro667=
NM_001142617.2:c.2001C>T NP_001136089.1:p.Pro667=
NM_001142619.2:c.1974C>T NP_001136091.1:p.Pro658=
NM_001199042.2:c.2118C>T NP_001185971.1:p.Pro706=
NM_001142618.2:c.2001C>T NP_001136090.1:p.Pro667=
NM_001199040.2:c.2112C>T NP_001185969.1:p.Pro704=
NM_001199041.2:c.2046C>T NP_001185970.1:p.Pro682=