Canonical Allele Identifier: CA370856976

Gene: EXTL3

Linked Data

• dbSNP Id: rs1387054206
• gnomAD v2: 8-28574241-C-G
• gnomAD v4: 8-28716724-C-G
• MyVariant Identifiers: chr8:g.28574241C>G (hg19) ; chr8:g.28716724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716724C>G , CM000670.2:g.28716724C>G	GRCh38
NC_000008.10:g.28574241C>G , CM000670.1:g.28574241C>G	GRCh37
NC_000008.9:g.28630160C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.665C>G	ENSP00000512467.1:p.Ala222Gly
ENST00000696178.1:c.665C>G	ENSP00000512468.1:p.Ala222Gly
ENST00000696179.1:c.665C>G	ENSP00000512469.1:p.Ala222Gly
ENST00000696180.1:c.665C>G	ENSP00000512470.1:p.Ala222Gly
ENST00000696181.1:c.665C>G	ENSP00000512471.1:p.Ala222Gly
ENST00000696182.1:c.-114-14499C>G	ENSP00000512472.1:n.-114-14499C>G
ENST00000696184.1:c.665C>G	ENSP00000512473.1:p.Ala222Gly
ENST00000696185.1:n.1298C>G
ENST00000696186.1:c.665C>G	ENSP00000512474.1:p.Ala222Gly
ENST00000220562.9:c.665C>G MANE Select	ENSP00000220562.4:p.Ala222Gly
ENST00000220562.8:c.665C>G	ENSP00000220562.4:p.Ala222Gly
ENST00000519886.5:n.631+658C>G
ENST00000521532.5:c.42+6221C>G	ENSP00000431013.1:n.42+6221C>G
ENST00000522698.1:c.40C>G
ENST00000523149.5:c.28-515C>G	ENSP00000428691.1:n.28-515C>G
NM_001440.3:c.665C>G	NP_001431.1:p.Ala222Gly
NR_073468.1:n.188-14499C>G
NR_073469.1:n.763+658C>G
XM_011544440.1:c.665C>G	XP_011542742.1:p.Ala222Gly
XM_011544440.3:c.665C>G	XP_011542742.1:p.Ala222Gly
XM_024447094.1:c.665C>G	XP_024302862.1:p.Ala222Gly
XM_024447095.1:c.665C>G	XP_024302863.1:p.Ala222Gly
XM_024447096.1:c.665C>G	XP_024302864.1:p.Ala222Gly
NM_001440.4:c.665C>G MANE Select	NP_001431.1:p.Ala222Gly
NR_073468.2:n.160-14499C>G
NR_073469.2:n.735+658C>G