Canonical Allele Identifier: CA358782932

Gene: AGA

Linked Data

• ClinVar Variation Id: 1383912
• ClinVar RCV Id: RCV001895598
• dbSNP Id: rs1189458949
• gnomAD v2: 4-178358651-T-C
• gnomAD v4: 4-177437497-T-C
• MyVariant Identifiers: chr4:g.178358651T>C (hg19) ; chr4:g.177437497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437497T>C , CM000666.2:g.177437497T>C	GRCh38
NC_000004.11:g.178358651T>C , CM000666.1:g.178358651T>C	GRCh37
NC_000004.10:g.178595645T>C	NCBI36
NG_011845.2:g.10007A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.530A>G MANE Select	ENSP00000264595.2:p.Lys177Arg
ENST00000264595.6:c.530A>G	ENSP00000264595.2:p.Lys177Arg
ENST00000502310.5:c.185A>G	ENSP00000423798.1:p.Lys62Arg
ENST00000506853.5:n.564A>G
ENST00000510635.1:c.226A>G
ENST00000510955.5:n.451A>G
NM_000027.3:c.530A>G	NP_000018.2:p.Lys177Arg
NM_001171988.1:c.530A>G	NP_001165459.1:p.Lys177Arg
NR_033655.1:n.658A>G
XM_006714123.2:c.530A>G	XP_006714186.1:p.Lys177Arg
XR_001741155.2:n.624A>G
NM_000027.4:c.530A>G MANE Select	NP_000018.2:p.Lys177Arg
NM_001171988.2:c.530A>G	NP_001165459.1:p.Lys177Arg
NR_033655.2:n.592A>G