Canonical Allele Identifier: CA7654429
Gene: STRA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 317098
dbSNP Id: rs142048815

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74180786G>A , CM000677.2:g.74180786G>A GRCh38
NC_000015.9:g.74473127G>A , CM000677.1:g.74473127G>A GRCh37
NC_000015.8:g.72260180G>A NCBI36
NG_009207.1:g.33245C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395105.9:c.1836C>T MANE Select ENSP00000378537.4:p.Asp612=
ENST00000323940.9:c.1836C>T ENSP00000326085.5:p.Asp612=
ENST00000395105.8:c.1836C>T ENSP00000378537.4:p.Asp612=
ENST00000416286.7:c.1812C>T ENSP00000400403.3:p.Asp604=
ENST00000423167.6:c.1809C>T ENSP00000413012.2:p.Asp603=
ENST00000449139.6:c.1836C>T ENSP00000410221.2:p.Asp612=
ENST00000535552.5:c.1947C>T ENSP00000440238.1:p.Asp649=
ENST00000545137.5:n.1545C>T
ENST00000563965.5:c.1953C>T ENSP00000456609.1:p.Asp651=
ENST00000572785.1:c.691C>T
ENST00000574278.5:c.1881C>T ENSP00000458827.1:p.Asp627=
ENST00000574439.5:n.2108C>T
ENST00000616000.4:c.1836C>T ENSP00000479112.1:p.Asp612=
NM_001142617.1:c.1836C>T NP_001136089.1:p.Asp612=
NM_001142618.1:c.1836C>T NP_001136090.1:p.Asp612=
NM_001142619.1:c.1809C>T NP_001136091.1:p.Asp603=
NM_001199040.1:c.1947C>T NP_001185969.1:p.Asp649=
NM_001199041.1:c.1881C>T NP_001185970.1:p.Asp627=
NM_001199042.1:c.1953C>T NP_001185971.1:p.Asp651=
NM_022369.3:c.1836C>T NP_071764.3:p.Asp612=
XM_011521883.1:c.1836C>T XP_011520185.1:p.Asp612=
XM_011521884.1:c.1647C>T XP_011520186.1:p.Asp549=
XM_017022478.1:c.1884C>T XP_016877967.1:p.Asp628=
XM_017022479.1:c.1836C>T XP_016877968.1:p.Asp612=
XM_017022480.1:c.1647C>T XP_016877969.1:p.Asp549=
NM_022369.4:c.1836C>T MANE Select NP_071764.3:p.Asp612=
NM_001142617.2:c.1836C>T NP_001136089.1:p.Asp612=
NM_001142619.2:c.1809C>T NP_001136091.1:p.Asp603=
NM_001199042.2:c.1953C>T NP_001185971.1:p.Asp651=
NM_001142618.2:c.1836C>T NP_001136090.1:p.Asp612=
NM_001199040.2:c.1947C>T NP_001185969.1:p.Asp649=
NM_001199041.2:c.1881C>T NP_001185970.1:p.Asp627=