Canonical Allele Identifier: CA358784059

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178361434T>G (hg19) ; chr4:g.177440280T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440280T>G , CM000666.2:g.177440280T>G	GRCh38
NC_000004.11:g.178361434T>G , CM000666.1:g.178361434T>G	GRCh37
NC_000004.10:g.178598428T>G	NCBI36
NG_011845.2:g.7224A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.274A>C MANE Select	ENSP00000264595.2:p.Met92Leu
ENST00000264595.6:c.274A>C	ENSP00000264595.2:p.Met92Leu
ENST00000506853.5:n.308A>C
ENST00000510955.5:n.308A>C
ENST00000511231.1:n.308A>C
NM_000027.3:c.274A>C	NP_000018.2:p.Met92Leu
NM_001171988.1:c.274A>C	NP_001165459.1:p.Met92Leu
NR_033655.1:n.402A>C
XM_006714123.2:c.274A>C	XP_006714186.1:p.Met92Leu
XR_001741155.2:n.368A>C
NM_000027.4:c.274A>C MANE Select	NP_000018.2:p.Met92Leu
NM_001171988.2:c.274A>C	NP_001165459.1:p.Met92Leu
NR_033655.2:n.336A>C