Canonical Allele Identifier: CA358782005

Gene: AGA

Linked Data

• dbSNP Id: rs1736731347
• gnomAD v4: 4-177434392-A-C
• MyVariant Identifiers: chr4:g.178355546A>C (hg19) ; chr4:g.177434392A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434392A>C , CM000666.2:g.177434392A>C	GRCh38
NC_000004.11:g.178355546A>C , CM000666.1:g.178355546A>C	GRCh37
NC_000004.10:g.178592540A>C	NCBI36
NG_011845.2:g.13112T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.796T>G MANE Select	ENSP00000264595.2:p.Phe266Val
ENST00000264595.6:c.796T>G	ENSP00000264595.2:p.Phe266Val
ENST00000502310.5:c.367T>G	ENSP00000423798.1:p.Phe123Val
ENST00000506853.5:n.754T>G
NM_000027.3:c.796T>G	NP_000018.2:p.Phe266Val
NM_001171988.1:c.766T>G	NP_001165459.1:p.Phe256Val
NR_033655.1:n.848T>G
XR_001741155.2:n.868T>G
NM_000027.4:c.796T>G MANE Select	NP_000018.2:p.Phe266Val
NM_001171988.2:c.766T>G	NP_001165459.1:p.Phe256Val
NR_033655.2:n.782T>G