Canonical Allele Identifier: CA3146810

Gene: AGA

Linked Data

• dbSNP Id: rs770570725
• ExAC: 4:178355579 C / G
• gnomAD v2: 4-178355579-C-G
• MyVariant Identifiers: chr4:g.178355579C>G (hg19) ; chr4:g.177434425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434425C>G , CM000666.2:g.177434425C>G	GRCh38
NC_000004.11:g.178355579C>G , CM000666.1:g.178355579C>G	GRCh37
NC_000004.10:g.178592573C>G	NCBI36
NG_011845.2:g.13079G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.763G>C MANE Select	ENSP00000264595.2:p.Ala255Pro
ENST00000264595.6:c.763G>C	ENSP00000264595.2:p.Ala255Pro
ENST00000502310.5:c.334G>C	ENSP00000423798.1:p.Ala112Pro
ENST00000506853.5:n.721G>C
NM_000027.3:c.763G>C	NP_000018.2:p.Ala255Pro
NM_001171988.1:c.733G>C	NP_001165459.1:p.Ala245Pro
NR_033655.1:n.815G>C
XM_006714123.2:c.*57G>C	XP_006714186.1:n.*57G>C
XR_001741155.2:n.835G>C
NM_000027.4:c.763G>C MANE Select	NP_000018.2:p.Ala255Pro
NM_001171988.2:c.733G>C	NP_001165459.1:p.Ala245Pro
NR_033655.2:n.749G>C