Canonical Allele Identifier: CA652796223
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-117835431-G-T
COSMIC: COSN26551515
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835431G>T , CM000670.2:g.117835431G>T GRCh38
NC_000008.10:g.118847670G>T , CM000670.1:g.118847670G>T GRCh37
NC_000008.9:g.118916851G>T NCBI36
NG_007455.2:g.281389C>A , LRG_493:g.281389C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.631+13C>A
ENST00000378204.7:c.1164+13C>A MANE Select ENSP00000367446.3:n.1164+13C>A
ENST00000436216.2:c.532+13C>A
ENST00000378204.6:c.1164+13C>A ENSP00000367446.2:n.1164+13C>A
ENST00000436216.1:c.532+13C>A
ENST00000437196.1:c.*55+13C>A ENSP00000407299.1:n.*55+13C>A
NM_000127.2:c.1164+13C>A , LRG_493t1:c.1164+13C>A NP_000118.2:n.1164+13C>A
NM_000127.3:c.1164+13C>A MANE Select NP_000118.2:n.1164+13C>A
Search 100 bp 5'
Search 100 bp 3'