Canonical Allele Identifier: CA846217832
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1182929933
MyVariant Identifiers: chr8:g.118849333C>G (hg19) chr8:g.117837094C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837094C>G , CM000670.2:g.117837094C>G GRCh38
NC_000008.10:g.118849333C>G , CM000670.1:g.118849333C>G GRCh37
NC_000008.9:g.118918514C>G NCBI36
NG_007455.2:g.279726G>C , LRG_493:g.279726G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.523+14G>C
ENST00000378204.7:c.1056+14G>C MANE Select ENSP00000367446.3:n.1056+14G>C
ENST00000436216.2:c.424+14G>C
ENST00000378204.6:c.1056+14G>C ENSP00000367446.2:n.1056+14G>C
ENST00000436216.1:c.424+14G>C
ENST00000437196.1:c.74-1543G>C ENSP00000407299.1:n.74-1543G>C
NM_000127.2:c.1056+14G>C , LRG_493t1:c.1056+14G>C NP_000118.2:n.1056+14G>C
NM_000127.3:c.1056+14G>C MANE Select NP_000118.2:n.1056+14G>C
Search 100 bp 5'
Search 100 bp 3'