Canonical Allele Identifier: CA370856474

Gene: EXTL3

Linked Data

• ClinVar Variation Id: 2101924
• ClinVar RCV Id: RCV003017150
• gnomAD v4: 8-28716573-A-C
• MyVariant Identifiers: chr8:g.28574090A>C (hg19) ; chr8:g.28716573A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716573A>C , CM000670.2:g.28716573A>C	GRCh38
NC_000008.10:g.28574090A>C , CM000670.1:g.28574090A>C	GRCh37
NC_000008.9:g.28630009A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.514A>C	ENSP00000512467.1:p.Lys172Gln
ENST00000696178.1:c.514A>C	ENSP00000512468.1:p.Lys172Gln
ENST00000696179.1:c.514A>C	ENSP00000512469.1:p.Lys172Gln
ENST00000696180.1:c.514A>C	ENSP00000512470.1:p.Lys172Gln
ENST00000696181.1:c.514A>C	ENSP00000512471.1:p.Lys172Gln
ENST00000696182.1:c.-114-14650A>C	ENSP00000512472.1:n.-114-14650A>C
ENST00000696184.1:c.514A>C	ENSP00000512473.1:p.Lys172Gln
ENST00000696185.1:n.1147A>C
ENST00000696186.1:c.514A>C	ENSP00000512474.1:p.Lys172Gln
ENST00000220562.9:c.514A>C MANE Select	ENSP00000220562.4:p.Lys172Gln
ENST00000220562.8:c.514A>C	ENSP00000220562.4:p.Lys172Gln
ENST00000519886.5:n.631+507A>C
ENST00000521532.5:c.42+6070A>C	ENSP00000431013.1:n.42+6070A>C
ENST00000523149.5:c.28-666A>C	ENSP00000428691.1:n.28-666A>C
NM_001440.3:c.514A>C	NP_001431.1:p.Lys172Gln
NR_073468.1:n.188-14650A>C
NR_073469.1:n.763+507A>C
XM_011544440.1:c.514A>C	XP_011542742.1:p.Lys172Gln
XM_011544440.3:c.514A>C	XP_011542742.1:p.Lys172Gln
XM_024447094.1:c.514A>C	XP_024302862.1:p.Lys172Gln
XM_024447095.1:c.514A>C	XP_024302863.1:p.Lys172Gln
XM_024447096.1:c.514A>C	XP_024302864.1:p.Lys172Gln
NM_001440.4:c.514A>C MANE Select	NP_001431.1:p.Lys172Gln
NR_073468.2:n.160-14650A>C
NR_073469.2:n.735+507A>C