Canonical Allele Identifier: CA442332648

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178359929A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438775A>C , CM000666.2:g.177438775A>C	GRCh38
NC_000004.11:g.178359929A>C , CM000666.1:g.178359929A>C	GRCh37
NC_000004.10:g.178596923A>C	NCBI36
NG_011845.2:g.8729T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.477T>G MANE Select	ENSP00000264595.2:p.Leu159=
ENST00000264595.6:c.477T>G	ENSP00000264595.2:p.Leu159=
ENST00000502310.5:c.132T>G	ENSP00000423798.1:p.Leu44=
ENST00000506853.5:n.511T>G
ENST00000510635.1:c.173T>G
ENST00000510955.5:n.398T>G
NM_000027.3:c.477T>G	NP_000018.2:p.Leu159=
NM_001171988.1:c.477T>G	NP_001165459.1:p.Leu159=
NR_033655.1:n.605T>G
XM_006714123.2:c.477T>G	XP_006714186.1:p.Leu159=
XR_001741155.2:n.571T>G
NM_000027.4:c.477T>G MANE Select	NP_000018.2:p.Leu159=
NM_001171988.2:c.477T>G	NP_001165459.1:p.Leu159=
NR_033655.2:n.539T>G