Canonical Allele Identifier: CA846256356

Gene: EXT1

Linked Data

• dbSNP Id: rs1301828089
• MyVariant Identifiers: chr8:g.119124068C>G (hg19) ; chr8:g.118111829C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111829C>G , CM000670.2:g.118111829C>G	GRCh38
NC_000008.10:g.119124068C>G , CM000670.1:g.119124068C>G	GRCh37
NC_000008.9:g.119193249C>G	NCBI36
NG_007455.2:g.4991G>C , LRG_493:g.4991G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.6:c.-783G>C	ENSP00000367446.2:n.-783G>C