Canonical Allele Identifier: CA966270

Gene: AGL

Linked Data

• dbSNP Id: rs759516802
• ExAC: 1:100336113 G / C
• gnomAD v2: 1-100336113-G-C
• MyVariant Identifiers: chr1:g.100336113G>C (hg19) ; chr1:g.99870557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870557G>C , CM000663.2:g.99870557G>C	GRCh38
NC_000001.10:g.100336113G>C , CM000663.1:g.100336113G>C	GRCh37
NC_000001.9:g.100108701G>C	NCBI36
NG_012865.1:g.25474G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.822G>C MANE Select	ENSP00000355106.3:p.Leu274Phe
ENST00000637337.1:n.1033G>C
ENST00000294724.8:c.822G>C	ENSP00000294724.4:p.Leu274Phe
ENST00000361302.7:c.774G>C	ENSP00000354971.3:p.Leu258Phe
ENST00000361522.4:c.771G>C	ENSP00000354635.4:p.Leu257Phe
ENST00000361915.7:c.822G>C	ENSP00000355106.3:p.Leu274Phe
ENST00000370161.6:c.774G>C	ENSP00000359180.2:p.Leu258Phe
ENST00000370163.7:c.822G>C	ENSP00000359182.3:p.Leu274Phe
ENST00000370165.7:c.822G>C	ENSP00000359184.3:p.Leu274Phe
NM_000028.2:c.822G>C	NP_000019.2:p.Leu274Phe
NM_000642.2:c.822G>C	NP_000633.2:p.Leu274Phe
NM_000643.2:c.822G>C	NP_000634.2:p.Leu274Phe
NM_000644.2:c.822G>C	NP_000635.2:p.Leu274Phe
NM_000645.2:c.771G>C	NP_000636.2:p.Leu257Phe
NM_000646.2:c.774G>C	NP_000637.2:p.Leu258Phe
XM_005270557.1:c.822G>C	XP_005270614.1:p.Leu274Phe
XM_005270557.2:c.822G>C	XP_005270614.1:p.Leu274Phe
NM_000642.3:c.822G>C MANE Select	NP_000633.2:p.Leu274Phe