Canonical Allele Identifier: CA462645081

Gene: EXT1

Linked Data

• gnomAD v4: 8-118110201-G-C
• MyVariant Identifiers: chr8:g.119122440G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110201G>C , CM000670.2:g.118110201G>C	GRCh38
NC_000008.10:g.119122440G>C , CM000670.1:g.119122440G>C	GRCh37
NC_000008.9:g.119191621G>C	NCBI36
NG_007455.2:g.6619C>G , LRG_493:g.6619C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.846C>G MANE Select	ENSP00000367446.3:p.Ala282=
ENST00000436216.2:c.214C>G
ENST00000378204.6:c.846C>G	ENSP00000367446.2:p.Ala282=
ENST00000436216.1:c.214C>G
ENST00000437196.1:c.73+773C>G	ENSP00000407299.1:n.73+773C>G
NM_000127.2:c.846C>G , LRG_493t1:c.846C>G	NP_000118.2:p.Ala282=
NM_000127.3:c.846C>G MANE Select	NP_000118.2:p.Ala282=