Canonical Allele Identifier: CA358782728

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358606A>G (hg19) ; chr4:g.177437452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437452A>G , CM000666.2:g.177437452A>G	GRCh38
NC_000004.11:g.178358606A>G , CM000666.1:g.178358606A>G	GRCh37
NC_000004.10:g.178595600A>G	NCBI36
NG_011845.2:g.10052T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.575T>C MANE Select	ENSP00000264595.2:p.Ile192Thr
ENST00000264595.6:c.575T>C	ENSP00000264595.2:p.Ile192Thr
ENST00000502310.5:c.230T>C	ENSP00000423798.1:p.Ile77Thr
ENST00000506853.5:n.609T>C
ENST00000510635.1:c.271T>C
ENST00000510955.5:n.496T>C
NM_000027.3:c.575T>C	NP_000018.2:p.Ile192Thr
NM_001171988.1:c.575T>C	NP_001165459.1:p.Ile192Thr
NR_033655.1:n.703T>C
XM_006714123.2:c.575T>C	XP_006714186.1:p.Ile192Thr
XR_001741155.2:n.669T>C
NM_000027.4:c.575T>C MANE Select	NP_000018.2:p.Ile192Thr
NM_001171988.2:c.575T>C	NP_001165459.1:p.Ile192Thr
NR_033655.2:n.637T>C