Canonical Allele Identifier: CA358783786

Gene: AGA

Linked Data

• dbSNP Id: rs76491548
• MyVariant Identifiers: chr4:g.178360811G>A (hg19) ; chr4:g.177439657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439657G>A , CM000666.2:g.177439657G>A	GRCh38
NC_000004.11:g.178360811G>A , CM000666.1:g.178360811G>A	GRCh37
NC_000004.10:g.178597805G>A	NCBI36
NG_011845.2:g.7847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.313C>T MANE Select	ENSP00000264595.2:p.Leu105Phe
ENST00000264595.6:c.313C>T	ENSP00000264595.2:p.Leu105Phe
ENST00000506853.5:n.347C>T
ENST00000510635.1:c.9C>T
ENST00000510955.5:n.315+616C>T
NM_000027.3:c.313C>T	NP_000018.2:p.Leu105Phe
NM_001171988.1:c.313C>T	NP_001165459.1:p.Leu105Phe
NR_033655.1:n.441C>T
XM_006714123.2:c.313C>T	XP_006714186.1:p.Leu105Phe
XR_001741155.2:n.407C>T
NM_000027.4:c.313C>T MANE Select	NP_000018.2:p.Leu105Phe
NM_001171988.2:c.313C>T	NP_001165459.1:p.Leu105Phe
NR_033655.2:n.375C>T