Canonical Allele Identifier: CA341323817

Gene: AGL

Linked Data

• dbSNP Id: rs1648916089
• MyVariant Identifiers: chr1:g.100316665T>C (hg19) ; chr1:g.99851109T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851109T>C , CM000663.2:g.99851109T>C	GRCh38
NC_000001.10:g.100316665T>C , CM000663.1:g.100316665T>C	GRCh37
NC_000001.9:g.100089253T>C	NCBI36
NG_012865.1:g.6026T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.67T>C MANE Select	ENSP00000355106.3:p.Phe23Leu
ENST00000294724.8:c.67T>C	ENSP00000294724.4:p.Phe23Leu
ENST00000361302.7:c.-125T>C	ENSP00000354971.3:n.-125T>C
ENST00000361915.7:c.67T>C	ENSP00000355106.3:p.Phe23Leu
ENST00000370163.7:c.67T>C	ENSP00000359182.3:p.Phe23Leu
ENST00000370165.7:c.67T>C	ENSP00000359184.3:p.Phe23Leu
NM_000028.2:c.67T>C	NP_000019.2:p.Phe23Leu
NM_000642.2:c.67T>C	NP_000633.2:p.Phe23Leu
NM_000643.2:c.67T>C	NP_000634.2:p.Phe23Leu
NM_000644.2:c.67T>C	NP_000635.2:p.Phe23Leu
NM_000646.2:c.-125T>C	NP_000637.2:n.-125T>C
XM_005270557.1:c.67T>C	XP_005270614.1:p.Phe23Leu
XM_005270557.2:c.67T>C	XP_005270614.1:p.Phe23Leu
NM_000642.3:c.67T>C MANE Select	NP_000633.2:p.Phe23Leu