Canonical Allele Identifier: CA110790152

Gene: AGA

Linked Data

• dbSNP Id: rs577042663
• gnomAD v2: 4-178360656-T-C
• gnomAD v3: 4-177439502-T-C
• gnomAD v4: 4-177439502-T-C
• MyVariant Identifiers: chr4:g.178360656T>C (hg19) ; chr4:g.177439502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439502T>C , CM000666.2:g.177439502T>C	GRCh38
NC_000004.11:g.178360656T>C , CM000666.1:g.178360656T>C	GRCh37
NC_000004.10:g.178597650T>C	NCBI36
NG_011845.2:g.8002A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+74A>G MANE Select	ENSP00000264595.2:n.394+74A>G
ENST00000264595.6:c.394+74A>G	ENSP00000264595.2:n.394+74A>G
ENST00000502310.5:c.49+74A>G	ENSP00000423798.1:n.49+74A>G
ENST00000506853.5:n.428+74A>G
ENST00000510635.1:c.90+74A>G
ENST00000510955.5:n.316-645A>G
NM_000027.3:c.394+74A>G	NP_000018.2:n.394+74A>G
NM_001171988.1:c.394+74A>G	NP_001165459.1:n.394+74A>G
NR_033655.1:n.522+74A>G
XM_006714123.2:c.394+74A>G	XP_006714186.1:n.394+74A>G
XR_001741155.2:n.488+74A>G
NM_000027.4:c.394+74A>G MANE Select	NP_000018.2:n.394+74A>G
NM_001171988.2:c.394+74A>G	NP_001165459.1:n.394+74A>G
NR_033655.2:n.456+74A>G