Canonical Allele Identifier: CA888303

Gene: ALG6

Linked Data

• dbSNP Id: rs572008178
• ExAC: 1:63881562 G / C
• MyVariant Identifiers: chr1:g.63881562G>C (hg19) ; chr1:g.63415891G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415891G>C , CM000663.2:g.63415891G>C	GRCh38
NC_000001.10:g.63881562G>C , CM000663.1:g.63881562G>C	GRCh37
NC_000001.9:g.63654150G>C	NCBI36
NG_008925.2:g.53302G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.921G>C MANE Select	ENSP00000263440.5:p.Leu307Phe
ENST00000603108.6:c.*70G>C	ENSP00000473934.2:n.*70G>C
ENST00000647818.1:c.*227G>C	ENSP00000497667.1:n.*227G>C
ENST00000648964.1:c.*650G>C	ENSP00000497828.1:n.*650G>C
ENST00000649570.1:c.*343G>C	ENSP00000497742.1:n.*343G>C
ENST00000650494.1:c.*278G>C	ENSP00000497170.1:n.*278G>C
ENST00000263440.4:c.927G>C	ENSP00000263440.4:p.Leu309Phe
ENST00000371108.8:c.921G>C	ENSP00000360149.4:p.Leu307Phe
ENST00000465969.5:n.510G>C
ENST00000603108.5:c.845G>C	ENSP00000473934.1:p.Ter282Ser
NM_013339.3:c.921G>C	NP_037471.2:p.Leu307Phe
NM_013339.4:c.921G>C MANE Select	NP_037471.2:p.Leu307Phe