Canonical Allele Identifier: CA3146879

Gene: AGA

Linked Data

• ClinVar Variation Id: 348234
• ClinVar RCV Id: RCV000302962 ; RCV001591006
• dbSNP Id: rs75260482
• ExAC: 4:178358546 A / G
• gnomAD v2: 4-178358546-A-G
• gnomAD v3: 4-177437392-A-G
• gnomAD v4: 4-177437392-A-G
• MyVariant Identifiers: chr4:g.178358546A>G (hg19) ; chr4:g.177437392A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437392A>G , CM000666.2:g.177437392A>G	GRCh38
NC_000004.11:g.178358546A>G , CM000666.1:g.178358546A>G	GRCh37
NC_000004.10:g.178595540A>G	NCBI36
NG_011845.2:g.10112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+13T>C MANE Select	ENSP00000264595.2:n.622+13T>C
ENST00000264595.6:c.622+13T>C	ENSP00000264595.2:n.622+13T>C
ENST00000502310.5:c.277+13T>C	ENSP00000423798.1:n.277+13T>C
ENST00000506853.5:n.656+13T>C
ENST00000510635.1:c.318+13T>C
ENST00000510955.5:n.556T>C
NM_000027.3:c.622+13T>C	NP_000018.2:n.622+13T>C
NM_001171988.1:c.622+13T>C	NP_001165459.1:n.622+13T>C
NR_033655.1:n.750+13T>C
XM_006714123.2:c.622+13T>C	XP_006714186.1:n.622+13T>C
XR_001741155.2:n.716+13T>C
NM_000027.4:c.622+13T>C MANE Select	NP_000018.2:n.622+13T>C
NM_001171988.2:c.622+13T>C	NP_001165459.1:n.622+13T>C
NR_033655.2:n.684+13T>C