Canonical Allele Identifier: CA358785111

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178363469C>A (hg19) ; chr4:g.177442315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442315C>A , CM000666.2:g.177442315C>A	GRCh38
NC_000004.11:g.178363469C>A , CM000666.1:g.178363469C>A	GRCh37
NC_000004.10:g.178600463C>A	NCBI36
NG_011845.2:g.5189G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.61G>T MANE Select	ENSP00000264595.2:p.Val21Leu
ENST00000264595.6:c.61G>T	ENSP00000264595.2:p.Val21Leu
ENST00000506853.5:n.95G>T
ENST00000510955.5:n.95G>T
ENST00000511231.1:n.95G>T
NM_000027.3:c.61G>T	NP_000018.2:p.Val21Leu
NM_001171988.1:c.61G>T	NP_001165459.1:p.Val21Leu
NR_033655.1:n.189G>T
XM_006714123.2:c.61G>T	XP_006714186.1:p.Val21Leu
XR_001741155.2:n.155G>T
NM_000027.4:c.61G>T MANE Select	NP_000018.2:p.Val21Leu
NM_001171988.2:c.61G>T	NP_001165459.1:p.Val21Leu
NR_033655.2:n.123G>T