Canonical Allele Identifier: CA3146910

Gene: AGA

Linked Data

• ClinVar Variation Id: 809707
• ClinVar RCV Id: RCV000998324 ; RCV001512519
• dbSNP Id: rs192195150
• ExAC: 4:178359924 C / T
• gnomAD v2: 4-178359924-C-T
• gnomAD v3: 4-177438770-C-T
• gnomAD v4: 4-177438770-C-T
• MyVariant Identifiers: chr4:g.178359924C>T (hg19) ; chr4:g.177438770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438770C>T , CM000666.2:g.177438770C>T	GRCh38
NC_000004.11:g.178359924C>T , CM000666.1:g.178359924C>T	GRCh37
NC_000004.10:g.178596918C>T	NCBI36
NG_011845.2:g.8734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.482G>A MANE Select	ENSP00000264595.2:p.Arg161Gln
ENST00000264595.6:c.482G>A	ENSP00000264595.2:p.Arg161Gln
ENST00000502310.5:c.137G>A	ENSP00000423798.1:p.Arg46Gln
ENST00000506853.5:n.516G>A
ENST00000510635.1:c.178G>A
ENST00000510955.5:n.403G>A
NM_000027.3:c.482G>A	NP_000018.2:p.Arg161Gln
NM_001171988.1:c.482G>A	NP_001165459.1:p.Arg161Gln
NR_033655.1:n.610G>A
XM_006714123.2:c.482G>A	XP_006714186.1:p.Arg161Gln
XR_001741155.2:n.576G>A
NM_000027.4:c.482G>A MANE Select	NP_000018.2:p.Arg161Gln
NM_001171988.2:c.482G>A	NP_001165459.1:p.Arg161Gln
NR_033655.2:n.544G>A