Canonical Allele Identifier: CA358783640

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360775T>G (hg19) ; chr4:g.177439621T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439621T>G , CM000666.2:g.177439621T>G	GRCh38
NC_000004.11:g.178360775T>G , CM000666.1:g.178360775T>G	GRCh37
NC_000004.10:g.178597769T>G	NCBI36
NG_011845.2:g.7883A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.349A>C MANE Select	ENSP00000264595.2:p.Lys117Gln
ENST00000264595.6:c.349A>C	ENSP00000264595.2:p.Lys117Gln
ENST00000502310.5:c.4A>C	ENSP00000423798.1:p.Lys2Gln
ENST00000506853.5:n.383A>C
ENST00000510635.1:c.45A>C
ENST00000510955.5:n.315+652A>C
NM_000027.3:c.349A>C	NP_000018.2:p.Lys117Gln
NM_001171988.1:c.349A>C	NP_001165459.1:p.Lys117Gln
NR_033655.1:n.477A>C
XM_006714123.2:c.349A>C	XP_006714186.1:p.Lys117Gln
XR_001741155.2:n.443A>C
NM_000027.4:c.349A>C MANE Select	NP_000018.2:p.Lys117Gln
NM_001171988.2:c.349A>C	NP_001165459.1:p.Lys117Gln
NR_033655.2:n.411A>C