Canonical Allele Identifier: CA27550694

Gene: AGL

Linked Data

• dbSNP Id: rs553053029
• gnomAD v4: 1-99851013-T-C
• MyVariant Identifiers: chr1:g.100316569T>C (hg19) ; chr1:g.99851013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851013T>C , CM000663.2:g.99851013T>C	GRCh38
NC_000001.10:g.100316569T>C , CM000663.1:g.100316569T>C	GRCh37
NC_000001.9:g.100089157T>C	NCBI36
NG_012865.1:g.5930T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.-30T>C MANE Select	ENSP00000355106.3:n.-30T>C
ENST00000294724.8:c.-30T>C	ENSP00000294724.4:n.-30T>C
ENST00000361302.7:c.-221T>C	ENSP00000354971.3:n.-221T>C
ENST00000361915.7:c.-30T>C	ENSP00000355106.3:n.-30T>C
ENST00000370163.7:c.-30T>C	ENSP00000359182.3:n.-30T>C
ENST00000370165.7:c.-8-22T>C	ENSP00000359184.3:n.-8-22T>C
NM_000028.2:c.-30T>C	NP_000019.2:n.-30T>C
NM_000642.2:c.-30T>C	NP_000633.2:n.-30T>C
NM_000643.2:c.-30T>C	NP_000634.2:n.-30T>C
NM_000644.2:c.-8-22T>C	NP_000635.2:n.-8-22T>C
NM_000646.2:c.-221T>C	NP_000637.2:n.-221T>C
XM_005270557.1:c.-30T>C	XP_005270614.1:n.-30T>C
XM_005270557.2:c.-30T>C	XP_005270614.1:n.-30T>C
NM_000642.3:c.-30T>C MANE Select	NP_000633.2:n.-30T>C