Canonical Allele Identifier: CA16603769

Gene: AGL

Linked Data

• ClinVar Variation Id: 389735
• ClinVar RCV Id: RCV000444876
• dbSNP Id: rs888498974
• gnomAD v2: 1-100315964-C-G
• gnomAD v3: 1-99850408-C-G
• gnomAD v4: 1-99850408-C-G
• MyVariant Identifiers: chr1:g.100315964C>G (hg19) ; chr1:g.99850408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99850408C>G , CM000663.2:g.99850408C>G	GRCh38
NC_000001.10:g.100315964C>G , CM000663.1:g.100315964C>G	GRCh37
NC_000001.9:g.100088552C>G	NCBI36
NG_012865.1:g.5325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.-76C>G MANE Select	ENSP00000355106.3:n.-76C>G
ENST00000361915.7:c.-76C>G	ENSP00000355106.3:n.-76C>G
NM_000642.2:c.-76C>G	NP_000633.2:n.-76C>G
XM_005270557.1:c.-69+307C>G	XP_005270614.1:n.-69+307C>G
XM_005270557.2:c.-69+307C>G	XP_005270614.1:n.-69+307C>G
NM_000642.3:c.-76C>G MANE Select	NP_000633.2:n.-76C>G