Canonical Allele Identifier: CA2688347194

Gene: EXT1

Linked Data

• gnomAD v4: 8-118111310-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111310G>T , CM000670.2:g.118111310G>T	GRCh38
NC_000008.10:g.119123549G>T , CM000670.1:g.119123549G>T	GRCh37
NC_000008.9:g.119192730G>T	NCBI36
NG_007455.2:g.5510C>A , LRG_493:g.5510C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-264C>A MANE Select	ENSP00000367446.3:n.-264C>A
ENST00000378204.6:c.-264C>A	ENSP00000367446.2:n.-264C>A
ENST00000437196.1:c.-264C>A	ENSP00000407299.1:n.-264C>A
NM_000127.2:c.-264C>A , LRG_493t1:c.-264C>A	NP_000118.2:n.-264C>A
NM_000127.3:c.-264C>A MANE Select	NP_000118.2:n.-264C>A