Canonical Allele Identifier: CA371914928

Gene: EXT1

Linked Data

• dbSNP Id: rs868304903
• MyVariant Identifiers: chr8:g.119122441G>T (hg19) ; chr8:g.118110202G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110202G>T , CM000670.2:g.118110202G>T	GRCh38
NC_000008.10:g.119122441G>T , CM000670.1:g.119122441G>T	GRCh37
NC_000008.9:g.119191622G>T	NCBI36
NG_007455.2:g.6618C>A , LRG_493:g.6618C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.845C>A MANE Select	ENSP00000367446.3:p.Ala282Asp
ENST00000436216.2:c.213C>A
ENST00000378204.6:c.845C>A	ENSP00000367446.2:p.Ala282Asp
ENST00000436216.1:c.213C>A
ENST00000437196.1:c.73+772C>A	ENSP00000407299.1:n.73+772C>A
NM_000127.2:c.845C>A , LRG_493t1:c.845C>A	NP_000118.2:p.Ala282Asp
NM_000127.3:c.845C>A MANE Select	NP_000118.2:p.Ala282Asp