Canonical Allele Identifier: CA393128733

Gene: STRA6

Linked Data

• dbSNP Id: rs142048815
• gnomAD v2: 15-74473127-G-C
• gnomAD v3: 15-74180786-G-C
• gnomAD v4: 15-74180786-G-C
• MyVariant Identifiers: chr15:g.74473127G>C (hg19) ; chr15:g.74180786G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000395105.9:c.1836C>G MANE Select	ENSP00000378537.4:p.Asp612Glu
ENST00000323940.9:c.1836C>G	ENSP00000326085.5:p.Asp612Glu
ENST00000395105.8:c.1836C>G	ENSP00000378537.4:p.Asp612Glu
ENST00000416286.7:c.1812C>G	ENSP00000400403.3:p.Asp604Glu
ENST00000423167.6:c.1809C>G	ENSP00000413012.2:p.Asp603Glu
ENST00000449139.6:c.1836C>G	ENSP00000410221.2:p.Asp612Glu
ENST00000535552.5:c.1947C>G	ENSP00000440238.1:p.Asp649Glu
ENST00000545137.5:n.1545C>G
ENST00000563965.5:c.1953C>G	ENSP00000456609.1:p.Asp651Glu
ENST00000572785.1:c.691C>G
ENST00000574278.5:c.1881C>G	ENSP00000458827.1:p.Asp627Glu
ENST00000574439.5:n.2108C>G
ENST00000616000.4:c.1836C>G	ENSP00000479112.1:p.Asp612Glu
NM_001142617.1:c.1836C>G	NP_001136089.1:p.Asp612Glu
NM_001142618.1:c.1836C>G	NP_001136090.1:p.Asp612Glu
NM_001142619.1:c.1809C>G	NP_001136091.1:p.Asp603Glu
NM_001199040.1:c.1947C>G	NP_001185969.1:p.Asp649Glu
NM_001199041.1:c.1881C>G	NP_001185970.1:p.Asp627Glu
NM_001199042.1:c.1953C>G	NP_001185971.1:p.Asp651Glu
NM_022369.3:c.1836C>G	NP_071764.3:p.Asp612Glu
XM_011521883.1:c.1836C>G	XP_011520185.1:p.Asp612Glu
XM_011521884.1:c.1647C>G	XP_011520186.1:p.Asp549Glu
XM_017022478.1:c.1884C>G	XP_016877967.1:p.Asp628Glu
XM_017022479.1:c.1836C>G	XP_016877968.1:p.Asp612Glu
XM_017022480.1:c.1647C>G	XP_016877969.1:p.Asp549Glu
NM_022369.4:c.1836C>G MANE Select	NP_071764.3:p.Asp612Glu
NM_001142617.2:c.1836C>G	NP_001136089.1:p.Asp612Glu
NM_001142619.2:c.1809C>G	NP_001136091.1:p.Asp603Glu
NM_001199042.2:c.1953C>G	NP_001185971.1:p.Asp651Glu
NM_001142618.2:c.1836C>G	NP_001136090.1:p.Asp612Glu
NM_001199040.2:c.1947C>G	NP_001185969.1:p.Asp649Glu
NM_001199041.2:c.1881C>G	NP_001185970.1:p.Asp627Glu