Canonical Allele Identifier: CA358782717

Gene: AGA

Linked Data

• gnomAD v4: 4-177437449-G-C
• MyVariant Identifiers: chr4:g.178358603G>C (hg19) ; chr4:g.177437449G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437449G>C , CM000666.2:g.177437449G>C	GRCh38
NC_000004.11:g.178358603G>C , CM000666.1:g.178358603G>C	GRCh37
NC_000004.10:g.178595597G>C	NCBI36
NG_011845.2:g.10055C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.578C>G MANE Select	ENSP00000264595.2:p.Pro193Arg
ENST00000264595.6:c.578C>G	ENSP00000264595.2:p.Pro193Arg
ENST00000502310.5:c.233C>G	ENSP00000423798.1:p.Pro78Arg
ENST00000506853.5:n.612C>G
ENST00000510635.1:c.274C>G
ENST00000510955.5:n.499C>G
NM_000027.3:c.578C>G	NP_000018.2:p.Pro193Arg
NM_001171988.1:c.578C>G	NP_001165459.1:p.Pro193Arg
NR_033655.1:n.706C>G
XM_006714123.2:c.578C>G	XP_006714186.1:p.Pro193Arg
XR_001741155.2:n.672C>G
NM_000027.4:c.578C>G MANE Select	NP_000018.2:p.Pro193Arg
NM_001171988.2:c.578C>G	NP_001165459.1:p.Pro193Arg
NR_033655.2:n.640C>G