Canonical Allele Identifier: CA442332608

Gene: AGA

Linked Data

• dbSNP Id: rs1451496749
• gnomAD v2: 4-178358650-T-C
• MyVariant Identifiers: chr4:g.178358650T>C (hg19) ; chr4:g.177437496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437496T>C , CM000666.2:g.177437496T>C	GRCh38
NC_000004.11:g.178358650T>C , CM000666.1:g.178358650T>C	GRCh37
NC_000004.10:g.178595644T>C	NCBI36
NG_011845.2:g.10008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.531A>G MANE Select	ENSP00000264595.2:p.Lys177=
ENST00000264595.6:c.531A>G	ENSP00000264595.2:p.Lys177=
ENST00000502310.5:c.186A>G	ENSP00000423798.1:p.Lys62=
ENST00000506853.5:n.565A>G
ENST00000510635.1:c.227A>G
ENST00000510955.5:n.452A>G
NM_000027.3:c.531A>G	NP_000018.2:p.Lys177=
NM_001171988.1:c.531A>G	NP_001165459.1:p.Lys177=
NR_033655.1:n.659A>G
XM_006714123.2:c.531A>G	XP_006714186.1:p.Lys177=
XR_001741155.2:n.625A>G
NM_000027.4:c.531A>G MANE Select	NP_000018.2:p.Lys177=
NM_001171988.2:c.531A>G	NP_001165459.1:p.Lys177=
NR_033655.2:n.593A>G