Canonical Allele Identifier: CA358783001

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358667T>G (hg19) ; chr4:g.177437513T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437513T>G , CM000666.2:g.177437513T>G	GRCh38
NC_000004.11:g.178358667T>G , CM000666.1:g.178358667T>G	GRCh37
NC_000004.10:g.178595661T>G	NCBI36
NG_011845.2:g.9991A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.514A>C MANE Select	ENSP00000264595.2:p.Ile172Leu
ENST00000264595.6:c.514A>C	ENSP00000264595.2:p.Ile172Leu
ENST00000502310.5:c.169A>C	ENSP00000423798.1:p.Ile57Leu
ENST00000506853.5:n.548A>C
ENST00000510635.1:c.210A>C
ENST00000510955.5:n.435A>C
NM_000027.3:c.514A>C	NP_000018.2:p.Ile172Leu
NM_001171988.1:c.514A>C	NP_001165459.1:p.Ile172Leu
NR_033655.1:n.642A>C
XM_006714123.2:c.514A>C	XP_006714186.1:p.Ile172Leu
XR_001741155.2:n.608A>C
NM_000027.4:c.514A>C MANE Select	NP_000018.2:p.Ile172Leu
NM_001171988.2:c.514A>C	NP_001165459.1:p.Ile172Leu
NR_033655.2:n.576A>C