Canonical Allele Identifier: CA965991

Gene: AGL

Linked Data

• dbSNP Id: rs754944003
• ExAC: 1:100316594 C / T
• gnomAD v2: 1-100316594-C-T
• gnomAD v3: 1-99851038-C-T
• gnomAD v4: 1-99851038-C-T
• MyVariant Identifiers: chr1:g.100316594C>T (hg19) ; chr1:g.99851038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851038C>T , CM000663.2:g.99851038C>T	GRCh38
NC_000001.10:g.100316594C>T , CM000663.1:g.100316594C>T	GRCh37
NC_000001.9:g.100089182C>T	NCBI36
NG_012865.1:g.5955C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.-5C>T MANE Select	ENSP00000355106.3:n.-5C>T
ENST00000294724.8:c.-5C>T	ENSP00000294724.4:n.-5C>T
ENST00000361302.7:c.-196C>T	ENSP00000354971.3:n.-196C>T
ENST00000361915.7:c.-5C>T	ENSP00000355106.3:n.-5C>T
ENST00000370163.7:c.-5C>T	ENSP00000359182.3:n.-5C>T
ENST00000370165.7:c.-5C>T	ENSP00000359184.3:n.-5C>T
NM_000028.2:c.-5C>T	NP_000019.2:n.-5C>T
NM_000642.2:c.-5C>T	NP_000633.2:n.-5C>T
NM_000643.2:c.-5C>T	NP_000634.2:n.-5C>T
NM_000644.2:c.-5C>T	NP_000635.2:n.-5C>T
NM_000646.2:c.-196C>T	NP_000637.2:n.-196C>T
XM_005270557.1:c.-5C>T	XP_005270614.1:n.-5C>T
XM_005270557.2:c.-5C>T	XP_005270614.1:n.-5C>T
NM_000642.3:c.-5C>T MANE Select	NP_000633.2:n.-5C>T