Canonical Allele Identifier: CA358782036

Gene: AGA

Linked Data

• ClinVar Variation Id: 1417139
• ClinVar RCV Id: RCV001938184
• dbSNP Id: rs1404090170
• gnomAD v2: 4-178355551-A-G
• gnomAD v4: 4-177434397-A-G
• MyVariant Identifiers: chr4:g.178355551A>G (hg19) ; chr4:g.177434397A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434397A>G , CM000666.2:g.177434397A>G	GRCh38
NC_000004.11:g.178355551A>G , CM000666.1:g.178355551A>G	GRCh37
NC_000004.10:g.178592545A>G	NCBI36
NG_011845.2:g.13107T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.791T>C MANE Select	ENSP00000264595.2:p.Met264Thr
ENST00000264595.6:c.791T>C	ENSP00000264595.2:p.Met264Thr
ENST00000502310.5:c.362T>C	ENSP00000423798.1:p.Met121Thr
ENST00000506853.5:n.749T>C
NM_000027.3:c.791T>C	NP_000018.2:p.Met264Thr
NM_001171988.1:c.761T>C	NP_001165459.1:p.Met254Thr
NR_033655.1:n.843T>C
XM_006714123.2:c.*85T>C	XP_006714186.1:n.*85T>C
XR_001741155.2:n.863T>C
NM_000027.4:c.791T>C MANE Select	NP_000018.2:p.Met264Thr
NM_001171988.2:c.761T>C	NP_001165459.1:p.Met254Thr
NR_033655.2:n.777T>C