Canonical Allele Identifier: CA358782621

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358583C>G (hg19) ; chr4:g.177437429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437429C>G , CM000666.2:g.177437429C>G	GRCh38
NC_000004.11:g.178358583C>G , CM000666.1:g.178358583C>G	GRCh37
NC_000004.10:g.178595577C>G	NCBI36
NG_011845.2:g.10075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.598G>C MANE Select	ENSP00000264595.2:p.Asp200His
ENST00000264595.6:c.598G>C	ENSP00000264595.2:p.Asp200His
ENST00000502310.5:c.253G>C	ENSP00000423798.1:p.Asp85His
ENST00000506853.5:n.632G>C
ENST00000510635.1:c.294G>C
ENST00000510955.5:n.519G>C
NM_000027.3:c.598G>C	NP_000018.2:p.Asp200His
NM_001171988.1:c.598G>C	NP_001165459.1:p.Asp200His
NR_033655.1:n.726G>C
XM_006714123.2:c.598G>C	XP_006714186.1:p.Asp200His
XR_001741155.2:n.692G>C
NM_000027.4:c.598G>C MANE Select	NP_000018.2:p.Asp200His
NM_001171988.2:c.598G>C	NP_001165459.1:p.Asp200His
NR_033655.2:n.660G>C