Canonical Allele Identifier: CA3147070

Gene: AGA

Linked Data

• ClinVar Variation Id: 1372697
• ClinVar RCV Id: RCV001908083
• dbSNP Id: rs759832068
• ExAC: 4:178363492 G / A
• gnomAD v2: 4-178363492-G-A
• gnomAD v3: 4-177442338-G-A
• gnomAD v4: 4-177442338-G-A
• MyVariant Identifiers: chr4:g.178363492G>A (hg19) ; chr4:g.177442338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442338G>A , CM000666.2:g.177442338G>A	GRCh38
NC_000004.11:g.178363492G>A , CM000666.1:g.178363492G>A	GRCh37
NC_000004.10:g.178600486G>A	NCBI36
NG_011845.2:g.5166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.38C>T MANE Select	ENSP00000264595.2:p.Pro13Leu
ENST00000264595.6:c.38C>T	ENSP00000264595.2:p.Pro13Leu
ENST00000506853.5:n.72C>T
ENST00000510955.5:n.72C>T
ENST00000511231.1:n.72C>T
NM_000027.3:c.38C>T	NP_000018.2:p.Pro13Leu
NM_001171988.1:c.38C>T	NP_001165459.1:p.Pro13Leu
NR_033655.1:n.166C>T
XM_006714123.2:c.38C>T	XP_006714186.1:p.Pro13Leu
XR_001741155.2:n.132C>T
NM_000027.4:c.38C>T MANE Select	NP_000018.2:p.Pro13Leu
NM_001171988.2:c.38C>T	NP_001165459.1:p.Pro13Leu
NR_033655.2:n.100C>T