Canonical Allele Identifier: CA10618347

Gene: AGA

Linked Data

• ClinVar Variation Id: 348236
• ClinVar RCV Id: RCV000276418
• dbSNP Id: rs886059262
• MyVariant Identifiers: chr4:g.178363435T>G (hg19) ; chr4:g.177442281T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442281T>G , CM000666.2:g.177442281T>G	GRCh38
NC_000004.11:g.178363435T>G , CM000666.1:g.178363435T>G	GRCh37
NC_000004.10:g.178600429T>G	NCBI36
NG_011845.2:g.5223A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.95A>C MANE Select	ENSP00000264595.2:p.Asn32Thr
ENST00000264595.6:c.95A>C	ENSP00000264595.2:p.Asn32Thr
ENST00000506853.5:n.129A>C
ENST00000510955.5:n.129A>C
ENST00000511231.1:n.129A>C
NM_000027.3:c.95A>C	NP_000018.2:p.Asn32Thr
NM_001171988.1:c.95A>C	NP_001165459.1:p.Asn32Thr
NR_033655.1:n.223A>C
XM_006714123.2:c.95A>C	XP_006714186.1:p.Asn32Thr
XR_001741155.2:n.189A>C
NM_000027.4:c.95A>C MANE Select	NP_000018.2:p.Asn32Thr
NM_001171988.2:c.95A>C	NP_001165459.1:p.Asn32Thr
NR_033655.2:n.157A>C