Canonical Allele Identifier: CA371892733

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118847780A>C (hg19) ; chr8:g.117835541A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835541A>C , CM000670.2:g.117835541A>C	GRCh38
NC_000008.10:g.118847780A>C , CM000670.1:g.118847780A>C	GRCh37
NC_000008.9:g.118916961A>C	NCBI36
NG_007455.2:g.281279T>G , LRG_493:g.281279T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.534T>G
ENST00000378204.7:c.1067T>G MANE Select	ENSP00000367446.3:p.Val356Gly
ENST00000436216.2:c.435T>G
ENST00000378204.6:c.1067T>G	ENSP00000367446.2:p.Val356Gly
ENST00000436216.1:c.435T>G
ENST00000437196.1:c.84T>G	ENSP00000407299.1:p.Arg28=
NM_000127.2:c.1067T>G , LRG_493t1:c.1067T>G	NP_000118.2:p.Val356Gly
NM_000127.3:c.1067T>G MANE Select	NP_000118.2:p.Val356Gly