Canonical Allele Identifier: CA2688346662

Gene: EXT1

Linked Data

• gnomAD v4: 8-117835396-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835396G>A , CM000670.2:g.117835396G>A	GRCh38
NC_000008.10:g.118847635G>A , CM000670.1:g.118847635G>A	GRCh37
NC_000008.9:g.118916816G>A	NCBI36
NG_007455.2:g.281424C>T , LRG_493:g.281424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.631+48C>T
ENST00000378204.7:c.1164+48C>T MANE Select	ENSP00000367446.3:n.1164+48C>T
ENST00000436216.2:c.532+48C>T
ENST00000378204.6:c.1164+48C>T	ENSP00000367446.2:n.1164+48C>T
ENST00000436216.1:c.532+48C>T
ENST00000437196.1:c.*55+48C>T	ENSP00000407299.1:n.*55+48C>T
NM_000127.2:c.1164+48C>T , LRG_493t1:c.1164+48C>T	NP_000118.2:n.1164+48C>T
NM_000127.3:c.1164+48C>T MANE Select	NP_000118.2:n.1164+48C>T