Canonical Allele Identifier: CA442333210

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178363494C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442340C>A , CM000666.2:g.177442340C>A	GRCh38
NC_000004.11:g.178363494C>A , CM000666.1:g.178363494C>A	GRCh37
NC_000004.10:g.178600488C>A	NCBI36
NG_011845.2:g.5164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.36G>T MANE Select	ENSP00000264595.2:p.Val12=
ENST00000264595.6:c.36G>T	ENSP00000264595.2:p.Val12=
ENST00000506853.5:n.70G>T
ENST00000510955.5:n.70G>T
ENST00000511231.1:n.70G>T
NM_000027.3:c.36G>T	NP_000018.2:p.Val12=
NM_001171988.1:c.36G>T	NP_001165459.1:p.Val12=
NR_033655.1:n.164G>T
XM_006714123.2:c.36G>T	XP_006714186.1:p.Val12=
XR_001741155.2:n.130G>T
NM_000027.4:c.36G>T MANE Select	NP_000018.2:p.Val12=
NM_001171988.2:c.36G>T	NP_001165459.1:p.Val12=
NR_033655.2:n.98G>T