Canonical Allele Identifier: CA358783780

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360810A>C (hg19) ; chr4:g.177439656A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439656A>C , CM000666.2:g.177439656A>C	GRCh38
NC_000004.11:g.178360810A>C , CM000666.1:g.178360810A>C	GRCh37
NC_000004.10:g.178597804A>C	NCBI36
NG_011845.2:g.7848T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.314T>G MANE Select	ENSP00000264595.2:p.Leu105Arg
ENST00000264595.6:c.314T>G	ENSP00000264595.2:p.Leu105Arg
ENST00000506853.5:n.348T>G
ENST00000510635.1:c.10T>G
ENST00000510955.5:n.315+617T>G
NM_000027.3:c.314T>G	NP_000018.2:p.Leu105Arg
NM_001171988.1:c.314T>G	NP_001165459.1:p.Leu105Arg
NR_033655.1:n.442T>G
XM_006714123.2:c.314T>G	XP_006714186.1:p.Leu105Arg
XR_001741155.2:n.408T>G
NM_000027.4:c.314T>G MANE Select	NP_000018.2:p.Leu105Arg
NM_001171988.2:c.314T>G	NP_001165459.1:p.Leu105Arg
NR_033655.2:n.376T>G