Canonical Allele Identifier: CA3147077

Gene: AGA

Linked Data

• ClinVar Variation Id: 778164
• ClinVar RCV Id: RCV000958765 ; RCV002427394 ; RCV003905791
• dbSNP Id: rs34413111
• ExAC: 4:178363506 A / G
• gnomAD v2: 4-178363506-A-G
• gnomAD v3: 4-177442352-A-G
• gnomAD v4: 4-177442352-A-G
• MyVariant Identifiers: chr4:g.178363506A>G (hg19) ; chr4:g.177442352A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442352A>G , CM000666.2:g.177442352A>G	GRCh38
NC_000004.11:g.178363506A>G , CM000666.1:g.178363506A>G	GRCh37
NC_000004.10:g.178600500A>G	NCBI36
NG_011845.2:g.5152T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.24T>C MANE Select	ENSP00000264595.2:p.Pro8=
ENST00000264595.6:c.24T>C	ENSP00000264595.2:p.Pro8=
ENST00000506853.5:n.58T>C
ENST00000510955.5:n.58T>C
ENST00000511231.1:n.58T>C
NM_000027.3:c.24T>C	NP_000018.2:p.Pro8=
NM_001171988.1:c.24T>C	NP_001165459.1:p.Pro8=
NR_033655.1:n.152T>C
XM_006714123.2:c.24T>C	XP_006714186.1:p.Pro8=
XR_001741155.2:n.118T>C
NM_000027.4:c.24T>C MANE Select	NP_000018.2:p.Pro8=
NM_001171988.2:c.24T>C	NP_001165459.1:p.Pro8=
NR_033655.2:n.86T>C