Canonical Allele Identifier: CA340637543

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881554A>C (hg19) ; chr1:g.63415883A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.913A>C MANE Select	ENSP00000263440.5:p.Thr305Pro
ENST00000603108.6:c.*62A>C	ENSP00000473934.2:n.*62A>C
ENST00000647818.1:c.*219A>C	ENSP00000497667.1:n.*219A>C
ENST00000648964.1:c.*642A>C	ENSP00000497828.1:n.*642A>C
ENST00000649570.1:c.*335A>C	ENSP00000497742.1:n.*335A>C
ENST00000650494.1:c.*270A>C	ENSP00000497170.1:n.*270A>C
ENST00000263440.4:c.919A>C	ENSP00000263440.4:p.Thr307Pro
ENST00000371108.8:c.913A>C	ENSP00000360149.4:p.Thr305Pro
ENST00000465969.5:n.502A>C
ENST00000603108.5:c.837A>C	ENSP00000473934.1:p.Leu279=
NM_013339.3:c.913A>C	NP_037471.2:p.Thr305Pro
NM_013339.4:c.913A>C MANE Select	NP_037471.2:p.Thr305Pro