Canonical Allele Identifier: CA358781989

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355545A>C (hg19) ; chr4:g.177434391A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434391A>C , CM000666.2:g.177434391A>C	GRCh38
NC_000004.11:g.178355545A>C , CM000666.1:g.178355545A>C	GRCh37
NC_000004.10:g.178592539A>C	NCBI36
NG_011845.2:g.13113T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.797T>G MANE Select	ENSP00000264595.2:p.Phe266Cys
ENST00000264595.6:c.797T>G	ENSP00000264595.2:p.Phe266Cys
ENST00000502310.5:c.368T>G	ENSP00000423798.1:p.Phe123Cys
ENST00000506853.5:n.755T>G
NM_000027.3:c.797T>G	NP_000018.2:p.Phe266Cys
NM_001171988.1:c.767T>G	NP_001165459.1:p.Phe256Cys
NR_033655.1:n.849T>G
XR_001741155.2:n.869T>G
NM_000027.4:c.797T>G MANE Select	NP_000018.2:p.Phe266Cys
NM_001171988.2:c.767T>G	NP_001165459.1:p.Phe256Cys
NR_033655.2:n.783T>G