Canonical Allele Identifier: CA4696013

Gene: EXTL3

Linked Data

• ClinVar Variation Id: 1938338
• ClinVar RCV Id: RCV002646298
• dbSNP Id: rs749286787
• ExAC: 8:28574088 C / T
• gnomAD v2: 8-28574088-C-T
• gnomAD v3: 8-28716571-C-T
• gnomAD v4: 8-28716571-C-T
• MyVariant Identifiers: chr8:g.28574088C>T (hg19) ; chr8:g.28716571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716571C>T , CM000670.2:g.28716571C>T	GRCh38
NC_000008.10:g.28574088C>T , CM000670.1:g.28574088C>T	GRCh37
NC_000008.9:g.28630007C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.512C>T	ENSP00000512467.1:p.Pro171Leu
ENST00000696178.1:c.512C>T	ENSP00000512468.1:p.Pro171Leu
ENST00000696179.1:c.512C>T	ENSP00000512469.1:p.Pro171Leu
ENST00000696180.1:c.512C>T	ENSP00000512470.1:p.Pro171Leu
ENST00000696181.1:c.512C>T	ENSP00000512471.1:p.Pro171Leu
ENST00000696182.1:c.-114-14652C>T	ENSP00000512472.1:n.-114-14652C>T
ENST00000696184.1:c.512C>T	ENSP00000512473.1:p.Pro171Leu
ENST00000696185.1:n.1145C>T
ENST00000696186.1:c.512C>T	ENSP00000512474.1:p.Pro171Leu
ENST00000220562.9:c.512C>T MANE Select	ENSP00000220562.4:p.Pro171Leu
ENST00000220562.8:c.512C>T	ENSP00000220562.4:p.Pro171Leu
ENST00000519886.5:n.631+505C>T
ENST00000521532.5:c.42+6068C>T	ENSP00000431013.1:n.42+6068C>T
ENST00000523149.5:c.28-668C>T	ENSP00000428691.1:n.28-668C>T
NM_001440.3:c.512C>T	NP_001431.1:p.Pro171Leu
NR_073468.1:n.188-14652C>T
NR_073469.1:n.763+505C>T
XM_011544440.1:c.512C>T	XP_011542742.1:p.Pro171Leu
XM_011544440.3:c.512C>T	XP_011542742.1:p.Pro171Leu
XM_024447094.1:c.512C>T	XP_024302862.1:p.Pro171Leu
XM_024447095.1:c.512C>T	XP_024302863.1:p.Pro171Leu
XM_024447096.1:c.512C>T	XP_024302864.1:p.Pro171Leu
NM_001440.4:c.512C>T MANE Select	NP_001431.1:p.Pro171Leu
NR_073468.2:n.160-14652C>T
NR_073469.2:n.735+505C>T