Canonical Allele Identifier: CA556482862

Gene: AGA

Linked Data

• ClinVar Variation Id: 2901110
• ClinVar RCV Id: RCV003598549
• dbSNP Id: rs1222852117
• gnomAD v2: 4-178355655-T-C
• gnomAD v4: 4-177434501-T-C
• MyVariant Identifiers: chr4:g.178355655T>C (hg19) ; chr4:g.177434501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434501T>C , CM000666.2:g.177434501T>C	GRCh38
NC_000004.11:g.178355655T>C , CM000666.1:g.178355655T>C	GRCh37
NC_000004.10:g.178592649T>C	NCBI36
NG_011845.2:g.13003A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-12A>G MANE Select	ENSP00000264595.2:n.699-12A>G
ENST00000264595.6:c.699-12A>G	ENSP00000264595.2:n.699-12A>G
ENST00000502310.5:c.278-20A>G	ENSP00000423798.1:n.278-20A>G
ENST00000506853.5:n.657-12A>G
ENST00000510635.1:c.373-20A>G
NM_000027.3:c.699-12A>G	NP_000018.2:n.699-12A>G
NM_001171988.1:c.677-20A>G	NP_001165459.1:n.677-20A>G
NR_033655.1:n.751-12A>G
XM_006714123.2:c.677-12A>G	XP_006714186.1:n.677-12A>G
XR_001741155.2:n.771-12A>G
NM_000027.4:c.699-12A>G MANE Select	NP_000018.2:n.699-12A>G
NM_001171988.2:c.677-20A>G	NP_001165459.1:n.677-20A>G
NR_033655.2:n.685-12A>G