Canonical Allele Identifier: CA442332587

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358617T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437463T>C , CM000666.2:g.177437463T>C	GRCh38
NC_000004.11:g.178358617T>C , CM000666.1:g.178358617T>C	GRCh37
NC_000004.10:g.178595611T>C	NCBI36
NG_011845.2:g.10041A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.564A>G MANE Select	ENSP00000264595.2:p.Leu188=
ENST00000264595.6:c.564A>G	ENSP00000264595.2:p.Leu188=
ENST00000502310.5:c.219A>G	ENSP00000423798.1:p.Leu73=
ENST00000506853.5:n.598A>G
ENST00000510635.1:c.260A>G
ENST00000510955.5:n.485A>G
NM_000027.3:c.564A>G	NP_000018.2:p.Leu188=
NM_001171988.1:c.564A>G	NP_001165459.1:p.Leu188=
NR_033655.1:n.692A>G
XM_006714123.2:c.564A>G	XP_006714186.1:p.Leu188=
XR_001741155.2:n.658A>G
NM_000027.4:c.564A>G MANE Select	NP_000018.2:p.Leu188=
NM_001171988.2:c.564A>G	NP_001165459.1:p.Leu188=
NR_033655.2:n.626A>G