Canonical Allele Identifier: CA7654435

Gene: STRA6

Linked Data

• ClinVar Variation Id: 3171563
• ClinVar RCV Id: RCV004458434
• dbSNP Id: rs374676386
• ExAC: 15:74473153 C / G
• gnomAD v2: 15-74473153-C-G
• gnomAD v3: 15-74180812-C-G
• gnomAD v4: 15-74180812-C-G
• MyVariant Identifiers: chr15:g.74473153C>G (hg19) ; chr15:g.74180812C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74180812C>G , CM000677.2:g.74180812C>G	GRCh38
NC_000015.9:g.74473153C>G , CM000677.1:g.74473153C>G	GRCh37
NC_000015.8:g.72260206C>G	NCBI36
NG_009207.1:g.33219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395105.9:c.1810G>C MANE Select	ENSP00000378537.4:p.Asp604His
ENST00000323940.9:c.1810G>C	ENSP00000326085.5:p.Asp604His
ENST00000395105.8:c.1810G>C	ENSP00000378537.4:p.Asp604His
ENST00000416286.7:c.1786G>C	ENSP00000400403.3:p.Asp596His
ENST00000423167.6:c.1783G>C	ENSP00000413012.2:p.Asp595His
ENST00000449139.6:c.1810G>C	ENSP00000410221.2:p.Asp604His
ENST00000535552.5:c.1921G>C	ENSP00000440238.1:p.Asp641His
ENST00000545137.5:n.1519G>C
ENST00000563965.5:c.1927G>C	ENSP00000456609.1:p.Asp643His
ENST00000572785.1:c.665G>C
ENST00000574278.5:c.1855G>C	ENSP00000458827.1:p.Asp619His
ENST00000574439.5:n.2082G>C
ENST00000616000.4:c.1810G>C	ENSP00000479112.1:p.Asp604His
NM_001142617.1:c.1810G>C	NP_001136089.1:p.Asp604His
NM_001142618.1:c.1810G>C	NP_001136090.1:p.Asp604His
NM_001142619.1:c.1783G>C	NP_001136091.1:p.Asp595His
NM_001199040.1:c.1921G>C	NP_001185969.1:p.Asp641His
NM_001199041.1:c.1855G>C	NP_001185970.1:p.Asp619His
NM_001199042.1:c.1927G>C	NP_001185971.1:p.Asp643His
NM_022369.3:c.1810G>C	NP_071764.3:p.Asp604His
XM_011521883.1:c.1810G>C	XP_011520185.1:p.Asp604His
XM_011521884.1:c.1621G>C	XP_011520186.1:p.Asp541His
XM_017022478.1:c.1858G>C	XP_016877967.1:p.Asp620His
XM_017022479.1:c.1810G>C	XP_016877968.1:p.Asp604His
XM_017022480.1:c.1621G>C	XP_016877969.1:p.Asp541His
NM_022369.4:c.1810G>C MANE Select	NP_071764.3:p.Asp604His
NM_001142617.2:c.1810G>C	NP_001136089.1:p.Asp604His
NM_001142619.2:c.1783G>C	NP_001136091.1:p.Asp595His
NM_001199042.2:c.1927G>C	NP_001185971.1:p.Asp643His
NM_001142618.2:c.1810G>C	NP_001136090.1:p.Asp604His
NM_001199040.2:c.1921G>C	NP_001185969.1:p.Asp641His
NM_001199041.2:c.1855G>C	NP_001185970.1:p.Asp619His