Canonical Allele Identifier: CA888445

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63436894A>T , CM000663.2:g.63436894A>T	GRCh38
NC_000001.10:g.63902565A>T , CM000663.1:g.63902565A>T	GRCh37
NC_000001.9:g.63675153A>T	NCBI36
NG_008925.2:g.74305A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013339.4:c.1398A>T MANE Select	NP_037471.2:p.Leu466=
ENST00000263440.6:c.1398A>T MANE Select	ENSP00000263440.5:p.Leu466=
NM_013339.3:c.1398A>T	NP_037471.2:p.Leu466=
ENST00000263440.4:c.1404A>T	ENSP00000263440.4:p.Leu468=
ENST00000371108.8:c.1398A>T	ENSP00000360149.4:p.Leu466=
ENST00000494765.1:n.961A>T
ENST00000494765.2:n.746A>T
ENST00000603108.5:c.*476A>T	ENSP00000473934.1:n.*476A>T
ENST00000603108.6:c.*547A>T	ENSP00000473934.2:n.*547A>T
ENST00000647818.1:c.*704A>T	ENSP00000497667.1:n.*704A>T
ENST00000648964.1:c.*1127A>T	ENSP00000497828.1:n.*1127A>T
ENST00000649570.1:c.*820A>T	ENSP00000497742.1:n.*820A>T