Canonical Allele Identifier: CA966635

Gene: AGL

Linked Data

• ClinVar Variation Id: 384584
• ClinVar RCV Id: RCV000436225 ; RCV001503716 ; RCV003897887
• dbSNP Id: rs749096703
• ExAC: 1:100346626 T / C
• gnomAD v2: 1-100346626-T-C
• gnomAD v3: 1-99881070-T-C
• gnomAD v4: 1-99881070-T-C
• MyVariant Identifiers: chr1:g.100346626T>C (hg19) ; chr1:g.99881070T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881070T>C , CM000663.2:g.99881070T>C	GRCh38
NC_000001.10:g.100346626T>C , CM000663.1:g.100346626T>C	GRCh37
NC_000001.9:g.100119214T>C	NCBI36
NG_012865.1:g.35987T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1900-6T>C MANE Select	ENSP00000355106.3:n.1900-6T>C
ENST00000637337.1:n.2111-6T>C
ENST00000294724.8:c.1900-6T>C	ENSP00000294724.4:n.1900-6T>C
ENST00000361302.7:c.1852-6T>C	ENSP00000354971.3:n.1852-6T>C
ENST00000361522.4:c.1849-6T>C	ENSP00000354635.4:n.1849-6T>C
ENST00000361915.7:c.1900-6T>C	ENSP00000355106.3:n.1900-6T>C
ENST00000370161.6:c.1852-6T>C	ENSP00000359180.2:n.1852-6T>C
ENST00000370163.7:c.1900-6T>C	ENSP00000359182.3:n.1900-6T>C
ENST00000370165.7:c.1900-6T>C	ENSP00000359184.3:n.1900-6T>C
NM_000028.2:c.1900-6T>C	NP_000019.2:n.1900-6T>C
NM_000642.2:c.1900-6T>C	NP_000633.2:n.1900-6T>C
NM_000643.2:c.1900-6T>C	NP_000634.2:n.1900-6T>C
NM_000644.2:c.1900-6T>C	NP_000635.2:n.1900-6T>C
NM_000645.2:c.1849-6T>C	NP_000636.2:n.1849-6T>C
NM_000646.2:c.1852-6T>C	NP_000637.2:n.1852-6T>C
XM_005270557.1:c.1900-6T>C	XP_005270614.1:n.1900-6T>C
XM_005270557.2:c.1900-6T>C	XP_005270614.1:n.1900-6T>C
XM_017000501.2:c.160-6T>C	XP_016855990.1:n.160-6T>C
NM_000642.3:c.1900-6T>C MANE Select	NP_000633.2:n.1900-6T>C