Canonical Allele Identifier: CA110789180

Gene: AGA

Linked Data

• dbSNP Id: rs985359945
• gnomAD v2: 4-178358573-C-G
• gnomAD v4: 4-177437419-C-G
• MyVariant Identifiers: chr4:g.178358573C>G (hg19) ; chr4:g.177437419C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437419C>G , CM000666.2:g.177437419C>G	GRCh38
NC_000004.11:g.178358573C>G , CM000666.1:g.178358573C>G	GRCh37
NC_000004.10:g.178595567C>G	NCBI36
NG_011845.2:g.10085G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.608G>C MANE Select	ENSP00000264595.2:p.Gly203Ala
ENST00000264595.6:c.608G>C	ENSP00000264595.2:p.Gly203Ala
ENST00000502310.5:c.263G>C	ENSP00000423798.1:p.Gly88Ala
ENST00000506853.5:n.642G>C
ENST00000510635.1:c.304G>C
ENST00000510955.5:n.529G>C
NM_000027.3:c.608G>C	NP_000018.2:p.Gly203Ala
NM_001171988.1:c.608G>C	NP_001165459.1:p.Gly203Ala
NR_033655.1:n.736G>C
XM_006714123.2:c.608G>C	XP_006714186.1:p.Gly203Ala
XR_001741155.2:n.702G>C
NM_000027.4:c.608G>C MANE Select	NP_000018.2:p.Gly203Ala
NM_001171988.2:c.608G>C	NP_001165459.1:p.Gly203Ala
NR_033655.2:n.670G>C