Canonical Allele Identifier: CA888390

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63428887T>C , CM000663.2:g.63428887T>C	GRCh38
NC_000001.10:g.63894558T>C , CM000663.1:g.63894558T>C	GRCh37
NC_000001.9:g.63667146T>C	NCBI36
NG_008925.2:g.66298T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013339.4:c.1128-41T>C MANE Select	NP_037471.2:n.1128-41T>C
ENST00000263440.6:c.1128-41T>C MANE Select	ENSP00000263440.5:n.1128-41T>C
NM_013339.3:c.1128-41T>C	NP_037471.2:n.1128-41T>C
ENST00000263440.4:c.1134-41T>C	ENSP00000263440.4:n.1134-41T>C
ENST00000371108.8:c.1128-41T>C	ENSP00000360149.4:n.1128-41T>C
ENST00000462390.1:n.117-41T>C
ENST00000465969.5:n.717-41T>C
ENST00000494765.1:n.650T>C
ENST00000494765.2:n.435T>C
ENST00000603108.5:c.*206-41T>C	ENSP00000473934.1:n.*206-41T>C
ENST00000603108.6:c.*277-41T>C	ENSP00000473934.2:n.*277-41T>C
ENST00000647818.1:c.*434-41T>C	ENSP00000497667.1:n.*434-41T>C
ENST00000648964.1:c.*857-41T>C	ENSP00000497828.1:n.*857-41T>C
ENST00000649570.1:c.*550-41T>C	ENSP00000497742.1:n.*550-41T>C
ENST00000650494.1:c.*485-41T>C	ENSP00000497170.1:n.*485-41T>C