Canonical Allele Identifier: CA390697645

Gene: VIPAS39

Linked Data

• dbSNP Id: rs1382793301
• gnomAD v2: 14-77907423-T-A
• gnomAD v4: 14-77441080-T-A
• MyVariant Identifiers: chr14:g.77907423T>A (hg19) ; chr14:g.77441080T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77441080T>A , CM000676.2:g.77441080T>A	GRCh38
NC_000014.8:g.77907423T>A , CM000676.1:g.77907423T>A	GRCh37
NC_000014.7:g.76977176T>A	NCBI36
NG_023421.1:g.21561A>T
NG_023421.2:g.21561A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557658.6:c.748A>T MANE Select	ENSP00000452191.1:p.Thr250Ser
ENST00000327028.8:c.601A>T	ENSP00000313098.5:p.Thr201Ser
ENST00000343765.6:c.748A>T	ENSP00000339122.2:p.Thr250Ser
ENST00000448935.6:c.601A>T	ENSP00000404815.2:p.Thr201Ser
ENST00000553576.5:n.160A>T
ENST00000553691.5:n.718A>T
ENST00000553888.5:c.748A>T	ENSP00000452181.1:p.Thr250Ser
ENST00000555854.1:n.193A>T
ENST00000556412.4:c.826A>T	ENSP00000451857.1:p.Thr276Ser
ENST00000557658.5:c.748A>T	ENSP00000452191.1:p.Thr250Ser
NM_001193314.1:c.748A>T	NP_001180243.1:p.Thr250Ser
NM_001193315.1:c.748A>T	NP_001180244.1:p.Thr250Ser
NM_001193316.1:c.601A>T	NP_001180245.1:p.Thr201Ser
NM_001193317.1:c.748A>T	NP_001180246.1:p.Thr250Ser
NM_022067.3:c.748A>T	NP_071350.2:p.Thr250Ser
XM_011537066.1:c.655A>T	XP_011535368.1:p.Thr219Ser
XM_011537066.2:c.655A>T	XP_011535368.1:p.Thr219Ser
XM_017021580.2:c.748A>T	XP_016877069.1:p.Thr250Ser
XM_017021581.2:c.748A>T	XP_016877070.1:p.Thr250Ser
XM_024449688.1:c.655A>T	XP_024305456.1:p.Thr219Ser
XR_001750501.2:n.870A>T
NM_001193314.2:c.748A>T	NP_001180243.1:p.Thr250Ser
NM_001193316.2:c.601A>T	NP_001180245.1:p.Thr201Ser
NM_001193317.2:c.748A>T	NP_001180246.1:p.Thr250Ser
NM_022067.4:c.748A>T	NP_071350.2:p.Thr250Ser
NM_001193315.2:c.748A>T MANE Select	NP_001180244.1:p.Thr250Ser
NM_001400324.1:c.601A>T	NP_001387253.1:p.Thr201Ser
NM_001400325.1:c.601A>T	NP_001387254.1:p.Thr201Ser
NM_001400326.1:c.748A>T	NP_001387255.1:p.Thr250Ser
NM_001400327.1:c.715A>T	NP_001387256.1:p.Thr239Ser
NM_001400330.1:c.748A>T	NP_001387259.1:p.Thr250Ser
NM_001400331.1:c.748A>T	NP_001387260.1:p.Thr250Ser
NM_001400332.1:c.748A>T	NP_001387261.1:p.Thr250Ser
NM_001400333.1:c.655A>T	NP_001387262.1:p.Thr219Ser
NM_001400334.1:c.655A>T	NP_001387263.1:p.Thr219Ser
NM_001400335.1:c.748A>T	NP_001387264.1:p.Thr250Ser
NM_001400336.1:c.748A>T	NP_001387265.1:p.Thr250Ser
NM_001400337.1:c.508A>T	NP_001387266.1:p.Thr170Ser
NM_001400338.1:c.734+1480A>T	NP_001387267.1:n.734+1480A>T
NM_001400339.1:c.748A>T	NP_001387268.1:p.Thr250Ser
NR_174476.1:n.855A>T