Canonical Allele Identifier: CA442332633

Gene: AGA

Linked Data

• ClinVar Variation Id: 3002670
• ClinVar RCV Id: RCV003860261
• MyVariant Identifiers: chr4:g.178359905A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438751A>G , CM000666.2:g.177438751A>G	GRCh38
NC_000004.11:g.178359905A>G , CM000666.1:g.178359905A>G	GRCh37
NC_000004.10:g.178596899A>G	NCBI36
NG_011845.2:g.8753T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.501T>C MANE Select	ENSP00000264595.2:p.Tyr167=
ENST00000264595.6:c.501T>C	ENSP00000264595.2:p.Tyr167=
ENST00000502310.5:c.156T>C	ENSP00000423798.1:p.Tyr52=
ENST00000506853.5:n.535T>C
ENST00000510635.1:c.197T>C
ENST00000510955.5:n.422T>C
NM_000027.3:c.501T>C	NP_000018.2:p.Tyr167=
NM_001171988.1:c.501T>C	NP_001165459.1:p.Tyr167=
NR_033655.1:n.629T>C
XM_006714123.2:c.501T>C	XP_006714186.1:p.Tyr167=
XR_001741155.2:n.595T>C
NM_000027.4:c.501T>C MANE Select	NP_000018.2:p.Tyr167=
NM_001171988.2:c.501T>C	NP_001165459.1:p.Tyr167=
NR_033655.2:n.563T>C