Canonical Allele Identifier: CA358783444

Gene: AGA

Linked Data

• gnomAD v4: 4-177438837-T-C
• MyVariant Identifiers: chr4:g.178359991T>C (hg19) ; chr4:g.177438837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438837T>C , CM000666.2:g.177438837T>C	GRCh38
NC_000004.11:g.178359991T>C , CM000666.1:g.178359991T>C	GRCh37
NC_000004.10:g.178596985T>C	NCBI36
NG_011845.2:g.8667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.415A>G MANE Select	ENSP00000264595.2:p.Met139Val
ENST00000264595.6:c.415A>G	ENSP00000264595.2:p.Met139Val
ENST00000502310.5:c.70A>G	ENSP00000423798.1:p.Met24Val
ENST00000506853.5:n.449A>G
ENST00000510635.1:c.111A>G
ENST00000510955.5:n.336A>G
NM_000027.3:c.415A>G	NP_000018.2:p.Met139Val
NM_001171988.1:c.415A>G	NP_001165459.1:p.Met139Val
NR_033655.1:n.543A>G
XM_006714123.2:c.415A>G	XP_006714186.1:p.Met139Val
XR_001741155.2:n.509A>G
NM_000027.4:c.415A>G MANE Select	NP_000018.2:p.Met139Val
NM_001171988.2:c.415A>G	NP_001165459.1:p.Met139Val
NR_033655.2:n.477A>G