Canonical Allele Identifier: CA358133093

Gene: INTU

Linked Data

• ClinVar Variation Id: 2908257
• ClinVar RCV Id: RCV003729682
• MyVariant Identifiers: chr4:g.128564758A>G (hg19) ; chr4:g.127643603A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127643603A>G , CM000666.2:g.127643603A>G	GRCh38
NC_000004.11:g.128564758A>G , CM000666.1:g.128564758A>G	GRCh37
NC_000004.10:g.128784208A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335251.11:c.229A>G MANE Select	ENSP00000334003.5:p.Ser77Gly
ENST00000335251.10:c.229A>G	ENSP00000334003.5:p.Ser77Gly
ENST00000503626.5:c.229A>G	ENSP00000426287.1:p.Ser77Gly
ENST00000503952.5:c.229A>G	ENSP00000421995.1:p.Ser77Gly
ENST00000504491.1:c.172A>G	ENSP00000422550.1:p.Ser58Gly
NM_015693.3:c.229A>G	NP_056508.2:p.Ser77Gly
XM_011531844.1:c.229A>G	XP_011530146.1:p.Ser77Gly
XM_011531845.1:c.229A>G	XP_011530147.1:p.Ser77Gly
XM_011531846.1:c.172A>G	XP_011530148.1:p.Ser58Gly
XM_011531849.1:c.229A>G	XP_011530151.1:p.Ser77Gly
XM_011531850.1:c.229A>G	XP_011530152.1:p.Ser77Gly
XM_011531851.1:c.229A>G	XP_011530153.1:p.Ser77Gly
XR_938720.1:n.332A>G
XM_011531844.3:c.229A>G	XP_011530146.1:p.Ser77Gly
XM_011531845.3:c.229A>G	XP_011530147.1:p.Ser77Gly
XM_011531849.3:c.229A>G	XP_011530151.1:p.Ser77Gly
XM_011531850.3:c.229A>G	XP_011530152.1:p.Ser77Gly
XM_011531851.3:c.229A>G	XP_011530153.1:p.Ser77Gly
XM_017008026.2:c.229A>G	XP_016863515.1:p.Ser77Gly
XR_001741201.1:n.304A>G
NM_015693.4:c.229A>G MANE Select	NP_056508.2:p.Ser77Gly