Canonical Allele Identifier: CA462465161

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118819476T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807237T>G , CM000670.2:g.117807237T>G	GRCh38
NC_000008.10:g.118819476T>G , CM000670.1:g.118819476T>G	GRCh37
NC_000008.9:g.118888657T>G	NCBI36
NG_007455.2:g.309583A>C , LRG_493:g.309583A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1330A>C
ENST00000378204.7:c.1863A>C MANE Select	ENSP00000367446.3:p.Thr621=
ENST00000378204.6:c.1863A>C	ENSP00000367446.2:p.Thr621=
ENST00000437196.1:c.*754A>C	ENSP00000407299.1:n.*754A>C
NM_000127.2:c.1863A>C , LRG_493t1:c.1863A>C	NP_000118.2:p.Thr621=
NM_000127.3:c.1863A>C MANE Select	NP_000118.2:p.Thr621=