Canonical Allele Identifier: CA2688347185

Gene: EXT1

Linked Data

• gnomAD v4: 8-118111291-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111291T>C , CM000670.2:g.118111291T>C	GRCh38
NC_000008.10:g.119123530T>C , CM000670.1:g.119123530T>C	GRCh37
NC_000008.9:g.119192711T>C	NCBI36
NG_007455.2:g.5529A>G , LRG_493:g.5529A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-245A>G MANE Select	ENSP00000367446.3:n.-245A>G
ENST00000378204.6:c.-245A>G	ENSP00000367446.2:n.-245A>G
ENST00000437196.1:c.-245A>G	ENSP00000407299.1:n.-245A>G
NM_000127.2:c.-245A>G , LRG_493t1:c.-245A>G	NP_000118.2:n.-245A>G
NM_000127.3:c.-245A>G MANE Select	NP_000118.2:n.-245A>G