Canonical Allele Identifier: CA371877987

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118819485C>T (hg19) ; chr8:g.117807246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807246C>T , CM000670.2:g.117807246C>T	GRCh38
NC_000008.10:g.118819485C>T , CM000670.1:g.118819485C>T	GRCh37
NC_000008.9:g.118888666C>T	NCBI36
NG_007455.2:g.309574G>A , LRG_493:g.309574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1321G>A
ENST00000378204.7:c.1854G>A MANE Select	ENSP00000367446.3:p.Met618Ile
ENST00000378204.6:c.1854G>A	ENSP00000367446.2:p.Met618Ile
ENST00000437196.1:c.*745G>A	ENSP00000407299.1:n.*745G>A
NM_000127.2:c.1854G>A , LRG_493t1:c.1854G>A	NP_000118.2:p.Met618Ile
NM_000127.3:c.1854G>A MANE Select	NP_000118.2:p.Met618Ile