Canonical Allele Identifier: CA2718162583
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs2129700778
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807190T>C , CM000670.2:g.117807190T>C GRCh38
NC_000008.10:g.118819429T>C , CM000670.1:g.118819429T>C GRCh37
NC_000008.9:g.118888610T>C NCBI36
NG_007455.2:g.309630A>G , LRG_493:g.309630A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.1350+27A>G
ENST00000378204.7:c.1883+27A>G MANE Select ENSP00000367446.3:n.1883+27A>G
ENST00000378204.6:c.1883+27A>G ENSP00000367446.2:n.1883+27A>G
ENST00000437196.1:c.*774+27A>G ENSP00000407299.1:n.*774+27A>G
NM_000127.2:c.1883+27A>G , LRG_493t1:c.1883+27A>G NP_000118.2:n.1883+27A>G
NM_000127.3:c.1883+27A>G MANE Select NP_000118.2:n.1883+27A>G
Search 100 bp 5'
Search 100 bp 3'