Canonical Allele Identifier: CA371893237

Gene: EXT1

Linked Data

• dbSNP Id: rs2129791047
• MyVariant Identifiers: chr8:g.118849360A>G (hg19) ; chr8:g.117837121A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837121A>G , CM000670.2:g.117837121A>G	GRCh38
NC_000008.10:g.118849360A>G , CM000670.1:g.118849360A>G	GRCh37
NC_000008.9:g.118918541A>G	NCBI36
NG_007455.2:g.279699T>C , LRG_493:g.279699T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.510T>C
ENST00000378204.7:c.1043T>C MANE Select	ENSP00000367446.3:p.Leu348Pro
ENST00000436216.2:c.411T>C
ENST00000378204.6:c.1043T>C	ENSP00000367446.2:p.Leu348Pro
ENST00000436216.1:c.411T>C
ENST00000437196.1:c.74-1570T>C	ENSP00000407299.1:n.74-1570T>C
NM_000127.2:c.1043T>C , LRG_493t1:c.1043T>C	NP_000118.2:p.Leu348Pro
NM_000127.3:c.1043T>C MANE Select	NP_000118.2:p.Leu348Pro