Canonical Allele Identifier: CA371877958
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807240C>G , CM000670.2:g.117807240C>G GRCh38
NC_000008.10:g.118819479C>G , CM000670.1:g.118819479C>G GRCh37
NC_000008.9:g.118888660C>G NCBI36
NG_007455.2:g.309580G>C , LRG_493:g.309580G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.1327G>C
ENST00000378204.7:c.1860G>C MANE Select ENSP00000367446.3:p.Leu620Phe
ENST00000378204.6:c.1860G>C ENSP00000367446.2:p.Leu620Phe
ENST00000437196.1:c.*751G>C ENSP00000407299.1:n.*751G>C
NM_000127.2:c.1860G>C , LRG_493t1:c.1860G>C NP_000118.2:p.Leu620Phe
NM_000127.3:c.1860G>C MANE Select NP_000118.2:p.Leu620Phe