Canonical Allele Identifier: CA358783482

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360002A>C (hg19) ; chr4:g.177438848A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438848A>C , CM000666.2:g.177438848A>C	GRCh38
NC_000004.11:g.178360002A>C , CM000666.1:g.178360002A>C	GRCh37
NC_000004.10:g.178596996A>C	NCBI36
NG_011845.2:g.8656T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.404T>G MANE Select	ENSP00000264595.2:p.Phe135Cys
ENST00000264595.6:c.404T>G	ENSP00000264595.2:p.Phe135Cys
ENST00000502310.5:c.59T>G	ENSP00000423798.1:p.Phe20Cys
ENST00000506853.5:n.438T>G
ENST00000510635.1:c.100T>G
ENST00000510955.5:n.325T>G
NM_000027.3:c.404T>G	NP_000018.2:p.Phe135Cys
NM_001171988.1:c.404T>G	NP_001165459.1:p.Phe135Cys
NR_033655.1:n.532T>G
XM_006714123.2:c.404T>G	XP_006714186.1:p.Phe135Cys
XR_001741155.2:n.498T>G
NM_000027.4:c.404T>G MANE Select	NP_000018.2:p.Phe135Cys
NM_001171988.2:c.404T>G	NP_001165459.1:p.Phe135Cys
NR_033655.2:n.466T>G