Canonical Allele Identifier: CA371914774

Gene: EXT1

Linked Data

• dbSNP Id: rs1817868370
• MyVariant Identifiers: chr8:g.119122374C>A (hg19) ; chr8:g.118110135C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110135C>A , CM000670.2:g.118110135C>A	GRCh38
NC_000008.10:g.119122374C>A , CM000670.1:g.119122374C>A	GRCh37
NC_000008.9:g.119191555C>A	NCBI36
NG_007455.2:g.6685G>T , LRG_493:g.6685G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378204.7:c.912G>T MANE Select	ENSP00000367446.3:p.Trp304Cys
ENST00000436216.2:c.280G>T
ENST00000378204.6:c.912G>T	ENSP00000367446.2:p.Trp304Cys
ENST00000436216.1:c.280G>T
ENST00000437196.1:c.73+839G>T	ENSP00000407299.1:n.73+839G>T
NM_000127.2:c.912G>T , LRG_493t1:c.912G>T	NP_000118.2:p.Trp304Cys
NM_000127.3:c.912G>T MANE Select	NP_000118.2:p.Trp304Cys