Canonical Allele Identifier: CA110789114

Gene: AGA

Linked Data

• dbSNP Id: rs973516263
• gnomAD v3: 4-177437337-T-C
• gnomAD v4: 4-177437337-T-C
• MyVariant Identifiers: chr4:g.178358491T>C (hg19) ; chr4:g.177437337T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437337T>C , CM000666.2:g.177437337T>C	GRCh38
NC_000004.11:g.178358491T>C , CM000666.1:g.178358491T>C	GRCh37
NC_000004.10:g.178595485T>C	NCBI36
NG_011845.2:g.10167A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+68A>G MANE Select	ENSP00000264595.2:n.622+68A>G
ENST00000264595.6:c.622+68A>G	ENSP00000264595.2:n.622+68A>G
ENST00000502310.5:c.277+68A>G	ENSP00000423798.1:n.277+68A>G
ENST00000506853.5:n.656+68A>G
ENST00000510635.1:c.318+68A>G
ENST00000510955.5:n.611A>G
NM_000027.3:c.622+68A>G	NP_000018.2:n.622+68A>G
NM_001171988.1:c.622+68A>G	NP_001165459.1:n.622+68A>G
NR_033655.1:n.750+68A>G
XM_006714123.2:c.622+68A>G	XP_006714186.1:n.622+68A>G
XR_001741155.2:n.716+68A>G
NM_000027.4:c.622+68A>G MANE Select	NP_000018.2:n.622+68A>G
NM_001171988.2:c.622+68A>G	NP_001165459.1:n.622+68A>G
NR_033655.2:n.684+68A>G