Canonical Allele Identifier: CA3146889

Gene: AGA

Linked Data

• ClinVar Variation Id: 348235
• ClinVar RCV Id: RCV000336820
• dbSNP Id: rs766110192
• ExAC: 4:178358610 C / G
• gnomAD v2: 4-178358610-C-G
• MyVariant Identifiers: chr4:g.178358610C>G (hg19) ; chr4:g.177437456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437456C>G , CM000666.2:g.177437456C>G	GRCh38
NC_000004.11:g.178358610C>G , CM000666.1:g.178358610C>G	GRCh37
NC_000004.10:g.178595604C>G	NCBI36
NG_011845.2:g.10048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.571G>C MANE Select	ENSP00000264595.2:p.Asp191His
ENST00000264595.6:c.571G>C	ENSP00000264595.2:p.Asp191His
ENST00000502310.5:c.226G>C	ENSP00000423798.1:p.Asp76His
ENST00000506853.5:n.605G>C
ENST00000510635.1:c.267G>C
ENST00000510955.5:n.492G>C
NM_000027.3:c.571G>C	NP_000018.2:p.Asp191His
NM_001171988.1:c.571G>C	NP_001165459.1:p.Asp191His
NR_033655.1:n.699G>C
XM_006714123.2:c.571G>C	XP_006714186.1:p.Asp191His
XR_001741155.2:n.665G>C
NM_000027.4:c.571G>C MANE Select	NP_000018.2:p.Asp191His
NM_001171988.2:c.571G>C	NP_001165459.1:p.Asp191His
NR_033655.2:n.633G>C