Canonical Allele Identifier: CA358782683

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358596A>C (hg19) ; chr4:g.177437442A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437442A>C , CM000666.2:g.177437442A>C	GRCh38
NC_000004.11:g.178358596A>C , CM000666.1:g.178358596A>C	GRCh37
NC_000004.10:g.178595590A>C	NCBI36
NG_011845.2:g.10062T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.585T>G MANE Select	ENSP00000264595.2:p.His195Gln
ENST00000264595.6:c.585T>G	ENSP00000264595.2:p.His195Gln
ENST00000502310.5:c.240T>G	ENSP00000423798.1:p.His80Gln
ENST00000506853.5:n.619T>G
ENST00000510635.1:c.281T>G
ENST00000510955.5:n.506T>G
NM_000027.3:c.585T>G	NP_000018.2:p.His195Gln
NM_001171988.1:c.585T>G	NP_001165459.1:p.His195Gln
NR_033655.1:n.713T>G
XM_006714123.2:c.585T>G	XP_006714186.1:p.His195Gln
XR_001741155.2:n.679T>G
NM_000027.4:c.585T>G MANE Select	NP_000018.2:p.His195Gln
NM_001171988.2:c.585T>G	NP_001165459.1:p.His195Gln
NR_033655.2:n.647T>G