Canonical Allele Identifier: CA358783163

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178359905A>C (hg19) ; chr4:g.177438751A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.501T>G MANE Select	ENSP00000264595.2:p.Tyr167Ter
ENST00000264595.6:c.501T>G	ENSP00000264595.2:p.Tyr167Ter
ENST00000502310.5:c.156T>G	ENSP00000423798.1:p.Tyr52Ter
ENST00000506853.5:n.535T>G
ENST00000510635.1:c.197T>G
ENST00000510955.5:n.422T>G
NM_000027.3:c.501T>G	NP_000018.2:p.Tyr167Ter
NM_001171988.1:c.501T>G	NP_001165459.1:p.Tyr167Ter
NR_033655.1:n.629T>G
XM_006714123.2:c.501T>G	XP_006714186.1:p.Tyr167Ter
XR_001741155.2:n.595T>G
NM_000027.4:c.501T>G MANE Select	NP_000018.2:p.Tyr167Ter
NM_001171988.2:c.501T>G	NP_001165459.1:p.Tyr167Ter
NR_033655.2:n.563T>G