Canonical Allele Identifier: CA16040842

Gene: AGL

Linked Data

• ClinVar Variation Id: 371033
• ClinVar RCV Id: RCV000409012
• dbSNP Id: rs1057516952
• gnomAD v4: 1-99891741-T-C
• MyVariant Identifiers: chr1:g.100357297T>C (hg19) ; chr1:g.99891741T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99891741T>C , CM000663.2:g.99891741T>C	GRCh38
NC_000001.10:g.100357297T>C , CM000663.1:g.100357297T>C	GRCh37
NC_000001.9:g.100129885T>C	NCBI36
NG_012865.1:g.46658T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3083+2T>C MANE Select	ENSP00000355106.3:n.3083+2T>C
ENST00000637337.1:n.3294+2T>C
ENST00000294724.8:c.3083+2T>C	ENSP00000294724.4:n.3083+2T>C
ENST00000361302.7:c.3035+2T>C	ENSP00000354971.3:n.3035+2T>C
ENST00000361522.4:c.3032+2T>C	ENSP00000354635.4:n.3032+2T>C
ENST00000361915.7:c.3083+2T>C	ENSP00000355106.3:n.3083+2T>C
ENST00000370161.6:c.3035+2T>C	ENSP00000359180.2:n.3035+2T>C
ENST00000370163.7:c.3083+2T>C	ENSP00000359182.3:n.3083+2T>C
ENST00000370165.7:c.3083+2T>C	ENSP00000359184.3:n.3083+2T>C
NM_000028.2:c.3083+2T>C	NP_000019.2:n.3083+2T>C
NM_000642.2:c.3083+2T>C	NP_000633.2:n.3083+2T>C
NM_000643.2:c.3083+2T>C	NP_000634.2:n.3083+2T>C
NM_000644.2:c.3083+2T>C	NP_000635.2:n.3083+2T>C
NM_000645.2:c.3032+2T>C	NP_000636.2:n.3032+2T>C
NM_000646.2:c.3035+2T>C	NP_000637.2:n.3035+2T>C
XM_005270557.1:c.3083+2T>C	XP_005270614.1:n.3083+2T>C
XM_005270557.2:c.3083+2T>C	XP_005270614.1:n.3083+2T>C
XM_017000501.2:c.1343+2T>C	XP_016855990.1:n.1343+2T>C
NM_000642.3:c.3083+2T>C MANE Select	NP_000633.2:n.3083+2T>C