Canonical Allele Identifier: CA371877956

Gene: EXT1

Linked Data

• gnomAD v4: 8-117807239-T-G
• MyVariant Identifiers: chr8:g.118819478T>G (hg19) ; chr8:g.117807239T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807239T>G , CM000670.2:g.117807239T>G	GRCh38
NC_000008.10:g.118819478T>G , CM000670.1:g.118819478T>G	GRCh37
NC_000008.9:g.118888659T>G	NCBI36
NG_007455.2:g.309581A>C , LRG_493:g.309581A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1328A>C
ENST00000378204.7:c.1861A>C MANE Select	ENSP00000367446.3:p.Thr621Pro
ENST00000378204.6:c.1861A>C	ENSP00000367446.2:p.Thr621Pro
ENST00000437196.1:c.*752A>C	ENSP00000407299.1:n.*752A>C
NM_000127.2:c.1861A>C , LRG_493t1:c.1861A>C	NP_000118.2:p.Thr621Pro
NM_000127.3:c.1861A>C MANE Select	NP_000118.2:p.Thr621Pro