Canonical Allele Identifier: CA358783564

Gene: AGA

Linked Data

• gnomAD v4: 4-177439600-G-A
• MyVariant Identifiers: chr4:g.178360754G>A (hg19) ; chr4:g.177439600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439600G>A , CM000666.2:g.177439600G>A	GRCh38
NC_000004.11:g.178360754G>A , CM000666.1:g.178360754G>A	GRCh37
NC_000004.10:g.178597748G>A	NCBI36
NG_011845.2:g.7904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.370C>T MANE Select	ENSP00000264595.2:p.His124Tyr
ENST00000264595.6:c.370C>T	ENSP00000264595.2:p.His124Tyr
ENST00000502310.5:c.25C>T	ENSP00000423798.1:p.His9Tyr
ENST00000506853.5:n.404C>T
ENST00000510635.1:c.66C>T
ENST00000510955.5:n.315+673C>T
NM_000027.3:c.370C>T	NP_000018.2:p.His124Tyr
NM_001171988.1:c.370C>T	NP_001165459.1:p.His124Tyr
NR_033655.1:n.498C>T
XM_006714123.2:c.370C>T	XP_006714186.1:p.His124Tyr
XR_001741155.2:n.464C>T
NM_000027.4:c.370C>T MANE Select	NP_000018.2:p.His124Tyr
NM_001171988.2:c.370C>T	NP_001165459.1:p.His124Tyr
NR_033655.2:n.432C>T