Canonical Allele Identifier: CA442332319

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355616T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434462T>C , CM000666.2:g.177434462T>C	GRCh38
NC_000004.11:g.178355616T>C , CM000666.1:g.178355616T>C	GRCh37
NC_000004.10:g.178592610T>C	NCBI36
NG_011845.2:g.13042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.726A>G MANE Select	ENSP00000264595.2:p.Gly242=
ENST00000264595.6:c.726A>G	ENSP00000264595.2:p.Gly242=
ENST00000502310.5:c.297A>G	ENSP00000423798.1:p.Gly99=
ENST00000506853.5:n.684A>G
ENST00000510635.1:c.392A>G
NM_000027.3:c.726A>G	NP_000018.2:p.Gly242=
NM_001171988.1:c.696A>G	NP_001165459.1:p.Gly232=
NR_033655.1:n.778A>G
XM_006714123.2:c.*20A>G	XP_006714186.1:n.*20A>G
XR_001741155.2:n.798A>G
NM_000027.4:c.726A>G MANE Select	NP_000018.2:p.Gly242=
NM_001171988.2:c.696A>G	NP_001165459.1:p.Gly232=
NR_033655.2:n.712A>G