Canonical Allele Identifier: CA371914679
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-118110095-C-G
MyVariant Identifiers: chr8:g.119122334C>G (hg19) chr8:g.118110095C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110095C>G , CM000670.2:g.118110095C>G GRCh38
NC_000008.10:g.119122334C>G , CM000670.1:g.119122334C>G GRCh37
NC_000008.9:g.119191515C>G NCBI36
NG_007455.2:g.6725G>C , LRG_493:g.6725G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.952G>C MANE Select ENSP00000367446.3:p.Glu318Gln
ENST00000436216.2:c.320G>C
ENST00000378204.6:c.952G>C ENSP00000367446.2:p.Glu318Gln
ENST00000436216.1:c.320G>C
ENST00000437196.1:c.73+879G>C ENSP00000407299.1:n.73+879G>C
NM_000127.2:c.952G>C , LRG_493t1:c.952G>C NP_000118.2:p.Glu318Gln
NM_000127.3:c.952G>C MANE Select NP_000118.2:p.Glu318Gln
Search 100 bp 5'
Search 100 bp 3'