Canonical Allele Identifier: CA2688347441

Gene: EXT1

Linked Data

• gnomAD v4: 8-118111548-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111548C>A , CM000670.2:g.118111548C>A	GRCh38
NC_000008.10:g.119123787C>A , CM000670.1:g.119123787C>A	GRCh37
NC_000008.9:g.119192968C>A	NCBI36
NG_007455.2:g.5272G>T , LRG_493:g.5272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-502G>T MANE Select	ENSP00000367446.3:n.-502G>T
ENST00000378204.6:c.-502G>T	ENSP00000367446.2:n.-502G>T
NM_000127.2:c.-502G>T , LRG_493t1:c.-502G>T	NP_000118.2:n.-502G>T
NM_000127.3:c.-502G>T MANE Select	NP_000118.2:n.-502G>T