Canonical Allele Identifier: CA358785131

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178363480C>G (hg19) ; chr4:g.177442326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442326C>G , CM000666.2:g.177442326C>G	GRCh38
NC_000004.11:g.178363480C>G , CM000666.1:g.178363480C>G	GRCh37
NC_000004.10:g.178600474C>G	NCBI36
NG_011845.2:g.5178G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.50G>C MANE Select	ENSP00000264595.2:p.Cys17Ser
ENST00000264595.6:c.50G>C	ENSP00000264595.2:p.Cys17Ser
ENST00000506853.5:n.84G>C
ENST00000510955.5:n.84G>C
ENST00000511231.1:n.84G>C
NM_000027.3:c.50G>C	NP_000018.2:p.Cys17Ser
NM_001171988.1:c.50G>C	NP_001165459.1:p.Cys17Ser
NR_033655.1:n.178G>C
XM_006714123.2:c.50G>C	XP_006714186.1:p.Cys17Ser
XR_001741155.2:n.144G>C
NM_000027.4:c.50G>C MANE Select	NP_000018.2:p.Cys17Ser
NM_001171988.2:c.50G>C	NP_001165459.1:p.Cys17Ser
NR_033655.2:n.112G>C