Canonical Allele Identifier: CA371914705

Gene: EXT1

Linked Data

• dbSNP Id: rs2130041040
• MyVariant Identifiers: chr8:g.119122345C>G (hg19) ; chr8:g.118110106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110106C>G , CM000670.2:g.118110106C>G	GRCh38
NC_000008.10:g.119122345C>G , CM000670.1:g.119122345C>G	GRCh37
NC_000008.9:g.119191526C>G	NCBI36
NG_007455.2:g.6714G>C , LRG_493:g.6714G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378204.7:c.941G>C MANE Select	ENSP00000367446.3:p.Arg314Thr
ENST00000436216.2:c.309G>C
ENST00000378204.6:c.941G>C	ENSP00000367446.2:p.Arg314Thr
ENST00000436216.1:c.309G>C
ENST00000437196.1:c.73+868G>C	ENSP00000407299.1:n.73+868G>C
NM_000127.2:c.941G>C , LRG_493t1:c.941G>C	NP_000118.2:p.Arg314Thr
NM_000127.3:c.941G>C MANE Select	NP_000118.2:p.Arg314Thr