Canonical Allele Identifier: CA442332270

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355556T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434402T>G , CM000666.2:g.177434402T>G	GRCh38
NC_000004.11:g.178355556T>G , CM000666.1:g.178355556T>G	GRCh37
NC_000004.10:g.178592550T>G	NCBI36
NG_011845.2:g.13102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.786A>C MANE Select	ENSP00000264595.2:p.Ile262=
ENST00000264595.6:c.786A>C	ENSP00000264595.2:p.Ile262=
ENST00000502310.5:c.357A>C	ENSP00000423798.1:p.Ile119=
ENST00000506853.5:n.744A>C
NM_000027.3:c.786A>C	NP_000018.2:p.Ile262=
NM_001171988.1:c.756A>C	NP_001165459.1:p.Ile252=
NR_033655.1:n.838A>C
XM_006714123.2:c.*80A>C	XP_006714186.1:n.*80A>C
XR_001741155.2:n.858A>C
NM_000027.4:c.786A>C MANE Select	NP_000018.2:p.Ile262=
NM_001171988.2:c.756A>C	NP_001165459.1:p.Ile252=
NR_033655.2:n.772A>C