Canonical Allele Identifier: CA408648314

Gene: ASIP AHCY

Linked Data

• gnomAD v4: 20-34269058-G-T
• MyVariant Identifiers: chr20:g.32856864G>T (hg19) ; chr20:g.34269058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34269058G>T , CM000682.2:g.34269058G>T	GRCh38
NC_000020.10:g.32856864G>T , CM000682.1:g.32856864G>T	GRCh37
NC_000020.9:g.32320525G>T	NCBI36
NG_011439.1:g.13694G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374954.4:c.290G>T (ASIP) MANE Select	ENSP00000364092.3:p.Arg97Leu
ENST00000374954.3:c.290G>T (ASIP)	ENSP00000364092.3:p.Arg97Leu
ENST00000568305.5:c.290G>T (ASIP)	ENSP00000454804.1:p.Arg97Leu
NM_001672.2:c.290G>T (ASIP)	NP_001663.2:p.Arg97Leu
XM_005260412.2:c.302G>T (ASIP)	XP_005260469.1:p.Arg101Leu
XM_011528657.1:c.*7+11969C>A (AHCY)	XP_011526959.1:n.*7+11969C>A
XM_011528820.1:c.290G>T (ASIP)	XP_011527122.1:p.Arg97Leu
XM_011528821.1:c.290G>T (ASIP)	XP_011527123.1:p.Arg97Leu
XM_011528822.1:c.290G>T (ASIP)	XP_011527124.1:p.Arg97Leu
XM_011528823.1:c.290G>T (ASIP)	XP_011527125.1:p.Arg97Leu
XM_005260412.3:c.302G>T (ASIP)	XP_005260469.1:p.Arg101Leu
XM_011528657.2:c.*7+11969C>A (AHCY)	XP_011526959.2:n.*7+11969C>A
XM_011528820.2:c.290G>T (ASIP)	XP_011527122.1:p.Arg97Leu
NM_001385218.1:c.290G>T (ASIP)	NP_001372147.1:p.Arg97Leu
NM_001672.3:c.290G>T (ASIP) MANE Select	NP_001663.2:p.Arg97Leu