Canonical Allele Identifier: CA556483521

Gene: AGA

Linked Data

• dbSNP Id: rs1312179367
• gnomAD v2: 4-178358424-A-C
• gnomAD v3: 4-177437270-A-C
• gnomAD v4: 4-177437270-A-C
• MyVariant Identifiers: chr4:g.178358424A>C (hg19) ; chr4:g.177437270A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437270A>C , CM000666.2:g.177437270A>C	GRCh38
NC_000004.11:g.178358424A>C , CM000666.1:g.178358424A>C	GRCh37
NC_000004.10:g.178595418A>C	NCBI36
NG_011845.2:g.10234T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+135T>G MANE Select	ENSP00000264595.2:n.622+135T>G
ENST00000264595.6:c.622+135T>G	ENSP00000264595.2:n.622+135T>G
ENST00000502310.5:c.277+135T>G	ENSP00000423798.1:n.277+135T>G
ENST00000506853.5:n.656+135T>G
ENST00000510635.1:c.318+135T>G
ENST00000510955.5:n.678T>G
NM_000027.3:c.622+135T>G	NP_000018.2:n.622+135T>G
NM_001171988.1:c.622+135T>G	NP_001165459.1:n.622+135T>G
NR_033655.1:n.750+135T>G
XM_006714123.2:c.622+135T>G	XP_006714186.1:n.622+135T>G
XR_001741155.2:n.716+135T>G
NM_000027.4:c.622+135T>G MANE Select	NP_000018.2:n.622+135T>G
NM_001171988.2:c.622+135T>G	NP_001165459.1:n.622+135T>G
NR_033655.2:n.684+135T>G