Canonical Allele Identifier: CA3146956

Gene: AGA

Linked Data

• ClinVar Variation Id: 254724
• ClinVar RCV Id: RCV000242517 ; RCV000297784
• dbSNP Id: rs142449515
• ExAC: 4:178360821 T / A
• gnomAD v2: 4-178360821-T-A
• gnomAD v3: 4-177439667-T-A
• gnomAD v4: 4-177439667-T-A
• MyVariant Identifiers: chr4:g.178360821T>A (hg19) ; chr4:g.177439667T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439667T>A , CM000666.2:g.177439667T>A	GRCh38
NC_000004.11:g.178360821T>A , CM000666.1:g.178360821T>A	GRCh37
NC_000004.10:g.178597815T>A	NCBI36
NG_011845.2:g.7837A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.303A>T MANE Select	ENSP00000264595.2:p.Ala101=
ENST00000264595.6:c.303A>T	ENSP00000264595.2:p.Ala101=
ENST00000506853.5:n.337A>T
ENST00000510955.5:n.315+606A>T
NM_000027.3:c.303A>T	NP_000018.2:p.Ala101=
NM_001171988.1:c.303A>T	NP_001165459.1:p.Ala101=
NR_033655.1:n.431A>T
XM_006714123.2:c.303A>T	XP_006714186.1:p.Ala101=
XR_001741155.2:n.397A>T
NM_000027.4:c.303A>T MANE Select	NP_000018.2:p.Ala101=
NM_001171988.2:c.303A>T	NP_001165459.1:p.Ala101=
NR_033655.2:n.365A>T