Canonical Allele Identifier: CA340637544

Gene: ALG6

Linked Data

• gnomAD v4: 1-63415883-A-G
• MyVariant Identifiers: chr1:g.63881554A>G (hg19) ; chr1:g.63415883A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415883A>G , CM000663.2:g.63415883A>G	GRCh38
NC_000001.10:g.63881554A>G , CM000663.1:g.63881554A>G	GRCh37
NC_000001.9:g.63654142A>G	NCBI36
NG_008925.2:g.53294A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.913A>G MANE Select	ENSP00000263440.5:p.Thr305Ala
ENST00000603108.6:c.*62A>G	ENSP00000473934.2:n.*62A>G
ENST00000647818.1:c.*219A>G	ENSP00000497667.1:n.*219A>G
ENST00000648964.1:c.*642A>G	ENSP00000497828.1:n.*642A>G
ENST00000649570.1:c.*335A>G	ENSP00000497742.1:n.*335A>G
ENST00000650494.1:c.*270A>G	ENSP00000497170.1:n.*270A>G
ENST00000263440.4:c.919A>G	ENSP00000263440.4:p.Thr307Ala
ENST00000371108.8:c.913A>G	ENSP00000360149.4:p.Thr305Ala
ENST00000465969.5:n.502A>G
ENST00000603108.5:c.837A>G	ENSP00000473934.1:p.Leu279=
NM_013339.3:c.913A>G	NP_037471.2:p.Thr305Ala
NM_013339.4:c.913A>G MANE Select	NP_037471.2:p.Thr305Ala