Canonical Allele Identifier: CA442332618

Gene: AGA

Linked Data

• gnomAD v4: 4-177437508-T-G
• MyVariant Identifiers: chr4:g.178358662T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437508T>G , CM000666.2:g.177437508T>G	GRCh38
NC_000004.11:g.178358662T>G , CM000666.1:g.178358662T>G	GRCh37
NC_000004.10:g.178595656T>G	NCBI36
NG_011845.2:g.9996A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.519A>C MANE Select	ENSP00000264595.2:p.Pro173=
ENST00000264595.6:c.519A>C	ENSP00000264595.2:p.Pro173=
ENST00000502310.5:c.174A>C	ENSP00000423798.1:p.Pro58=
ENST00000506853.5:n.553A>C
ENST00000510635.1:c.215A>C
ENST00000510955.5:n.440A>C
NM_000027.3:c.519A>C	NP_000018.2:p.Pro173=
NM_001171988.1:c.519A>C	NP_001165459.1:p.Pro173=
NR_033655.1:n.647A>C
XM_006714123.2:c.519A>C	XP_006714186.1:p.Pro173=
XR_001741155.2:n.613A>C
NM_000027.4:c.519A>C MANE Select	NP_000018.2:p.Pro173=
NM_001171988.2:c.519A>C	NP_001165459.1:p.Pro173=
NR_033655.2:n.581A>C