Canonical Allele Identifier: CA3146794

Gene: AGA

Linked Data

• dbSNP Id: rs764325873
• ExAC: 4:178355492 T / C
• gnomAD v2: 4-178355492-T-C
• MyVariant Identifiers: chr4:g.178355492T>C (hg19) ; chr4:g.177434338T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434338T>C , CM000666.2:g.177434338T>C	GRCh38
NC_000004.11:g.178355492T>C , CM000666.1:g.178355492T>C	GRCh37
NC_000004.10:g.178592486T>C	NCBI36
NG_011845.2:g.13166A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.806+44A>G MANE Select	ENSP00000264595.2:n.806+44A>G
ENST00000264595.6:c.806+44A>G	ENSP00000264595.2:n.806+44A>G
ENST00000502310.5:c.377+44A>G	ENSP00000423798.1:n.377+44A>G
NM_000027.3:c.806+44A>G	NP_000018.2:n.806+44A>G
NM_001171988.1:c.776+44A>G	NP_001165459.1:n.776+44A>G
NR_033655.1:n.858+44A>G
XR_001741155.2:n.878+44A>G
NM_000027.4:c.806+44A>G MANE Select	NP_000018.2:n.806+44A>G
NM_001171988.2:c.776+44A>G	NP_001165459.1:n.776+44A>G
NR_033655.2:n.792+44A>G