Canonical Allele Identifier: CA442333193

Gene: AGA

Linked Data

• dbSNP Id: rs749548544
• MyVariant Identifiers: chr4:g.178363482G>C (hg19) ; chr4:g.177442328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442328G>C , CM000666.2:g.177442328G>C	GRCh38
NC_000004.11:g.178363482G>C , CM000666.1:g.178363482G>C	GRCh37
NC_000004.10:g.178600476G>C	NCBI36
NG_011845.2:g.5176C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.48C>G MANE Select	ENSP00000264595.2:p.Leu16=
ENST00000264595.6:c.48C>G	ENSP00000264595.2:p.Leu16=
ENST00000506853.5:n.82C>G
ENST00000510955.5:n.82C>G
ENST00000511231.1:n.82C>G
NM_000027.3:c.48C>G	NP_000018.2:p.Leu16=
NM_001171988.1:c.48C>G	NP_001165459.1:p.Leu16=
NR_033655.1:n.176C>G
XM_006714123.2:c.48C>G	XP_006714186.1:p.Leu16=
XR_001741155.2:n.142C>G
NM_000027.4:c.48C>G MANE Select	NP_000018.2:p.Leu16=
NM_001171988.2:c.48C>G	NP_001165459.1:p.Leu16=
NR_033655.2:n.110C>G