Canonical Allele Identifier: CA358783669

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360784C>A (hg19) ; chr4:g.177439630C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439630C>A , CM000666.2:g.177439630C>A	GRCh38
NC_000004.11:g.178360784C>A , CM000666.1:g.178360784C>A	GRCh37
NC_000004.10:g.178597778C>A	NCBI36
NG_011845.2:g.7874G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.340G>T MANE Select	ENSP00000264595.2:p.Val114Leu
ENST00000264595.6:c.340G>T	ENSP00000264595.2:p.Val114Leu
ENST00000506853.5:n.374G>T
ENST00000510635.1:c.36G>T
ENST00000510955.5:n.315+643G>T
NM_000027.3:c.340G>T	NP_000018.2:p.Val114Leu
NM_001171988.1:c.340G>T	NP_001165459.1:p.Val114Leu
NR_033655.1:n.468G>T
XM_006714123.2:c.340G>T	XP_006714186.1:p.Val114Leu
XR_001741155.2:n.434G>T
NM_000027.4:c.340G>T MANE Select	NP_000018.2:p.Val114Leu
NM_001171988.2:c.340G>T	NP_001165459.1:p.Val114Leu
NR_033655.2:n.402G>T