Canonical Allele Identifier: CA3146967

Gene: AGA

Linked Data

• dbSNP Id: rs371634909
• ExAC: 4:178360893 T / C
• gnomAD v2: 4-178360893-T-C
• gnomAD v3: 4-177439739-T-C
• gnomAD v4: 4-177439739-T-C
• MyVariant Identifiers: chr4:g.178360893T>C (hg19) ; chr4:g.177439739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439739T>C , CM000666.2:g.177439739T>C	GRCh38
NC_000004.11:g.178360893T>C , CM000666.1:g.178360893T>C	GRCh37
NC_000004.10:g.178597887T>C	NCBI36
NG_011845.2:g.7765A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-51A>G MANE Select	ENSP00000264595.2:n.282-51A>G
ENST00000264595.6:c.282-51A>G	ENSP00000264595.2:n.282-51A>G
ENST00000506853.5:n.316-51A>G
ENST00000510955.5:n.315+534A>G
NM_000027.3:c.282-51A>G	NP_000018.2:n.282-51A>G
NM_001171988.1:c.282-51A>G	NP_001165459.1:n.282-51A>G
NR_033655.1:n.410-51A>G
XM_006714123.2:c.282-51A>G	XP_006714186.1:n.282-51A>G
XR_001741155.2:n.376-51A>G
NM_000027.4:c.282-51A>G MANE Select	NP_000018.2:n.282-51A>G
NM_001171988.2:c.282-51A>G	NP_001165459.1:n.282-51A>G
NR_033655.2:n.344-51A>G