Canonical Allele Identifier: CA358783812

Gene: AGA

Linked Data

• ClinVar Variation Id: 972180
• ClinVar RCV Id: RCV001248152
• dbSNP Id: rs1736932419
• gnomAD v4: 4-177439662-C-T
• MyVariant Identifiers: chr4:g.178360816C>T (hg19) ; chr4:g.177439662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439662C>T , CM000666.2:g.177439662C>T	GRCh38
NC_000004.11:g.178360816C>T , CM000666.1:g.178360816C>T	GRCh37
NC_000004.10:g.178597810C>T	NCBI36
NG_011845.2:g.7842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.308G>A MANE Select	ENSP00000264595.2:p.Gly103Glu
ENST00000264595.6:c.308G>A	ENSP00000264595.2:p.Gly103Glu
ENST00000506853.5:n.342G>A
ENST00000510635.1:c.4G>A
ENST00000510955.5:n.315+611G>A
NM_000027.3:c.308G>A	NP_000018.2:p.Gly103Glu
NM_001171988.1:c.308G>A	NP_001165459.1:p.Gly103Glu
NR_033655.1:n.436G>A
XM_006714123.2:c.308G>A	XP_006714186.1:p.Gly103Glu
XR_001741155.2:n.402G>A
NM_000027.4:c.308G>A MANE Select	NP_000018.2:p.Gly103Glu
NM_001171988.2:c.308G>A	NP_001165459.1:p.Gly103Glu
NR_033655.2:n.370G>A