Canonical Allele Identifier: CA370857566

Gene: EXTL3

Linked Data

• MyVariant Identifiers: chr8:g.28574409T>C (hg19) ; chr8:g.28716892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716892T>C , CM000670.2:g.28716892T>C	GRCh38
NC_000008.10:g.28574409T>C , CM000670.1:g.28574409T>C	GRCh37
NC_000008.9:g.28630328T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.833T>C	ENSP00000512467.1:p.Leu278Pro
ENST00000696178.1:c.833T>C	ENSP00000512468.1:p.Leu278Pro
ENST00000696179.1:c.833T>C	ENSP00000512469.1:p.Leu278Pro
ENST00000696180.1:c.833T>C	ENSP00000512470.1:p.Leu278Pro
ENST00000696181.1:c.833T>C	ENSP00000512471.1:p.Leu278Pro
ENST00000696182.1:c.-114-14331T>C	ENSP00000512472.1:n.-114-14331T>C
ENST00000696184.1:c.833T>C	ENSP00000512473.1:p.Leu278Pro
ENST00000696185.1:n.1466T>C
ENST00000696186.1:c.833T>C	ENSP00000512474.1:p.Leu278Pro
ENST00000220562.9:c.833T>C MANE Select	ENSP00000220562.4:p.Leu278Pro
ENST00000220562.8:c.833T>C	ENSP00000220562.4:p.Leu278Pro
ENST00000519886.5:n.631+826T>C
ENST00000521532.5:c.42+6389T>C	ENSP00000431013.1:n.42+6389T>C
ENST00000522698.1:c.208T>C
ENST00000523149.5:c.28-347T>C	ENSP00000428691.1:n.28-347T>C
NM_001440.3:c.833T>C	NP_001431.1:p.Leu278Pro
NR_073468.1:n.188-14331T>C
NR_073469.1:n.763+826T>C
XM_011544440.1:c.833T>C	XP_011542742.1:p.Leu278Pro
XM_011544440.3:c.833T>C	XP_011542742.1:p.Leu278Pro
XM_024447094.1:c.833T>C	XP_024302862.1:p.Leu278Pro
XM_024447095.1:c.833T>C	XP_024302863.1:p.Leu278Pro
XM_024447096.1:c.833T>C	XP_024302864.1:p.Leu278Pro
NM_001440.4:c.833T>C MANE Select	NP_001431.1:p.Leu278Pro
NR_073468.2:n.160-14331T>C
NR_073469.2:n.735+826T>C