Canonical Allele Identifier: CA408649077

Gene: ASIP AHCY

Linked Data

• dbSNP Id: rs2035844270
• MyVariant Identifiers: chr20:g.32856963T>A (hg19) ; chr20:g.34269157T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34269157T>A , CM000682.2:g.34269157T>A	GRCh38
NC_000020.10:g.32856963T>A , CM000682.1:g.32856963T>A	GRCh37
NC_000020.9:g.32320624T>A	NCBI36
NG_011439.1:g.13793T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374954.4:c.389T>A (ASIP) MANE Select	ENSP00000364092.3:p.Leu130His
ENST00000374954.3:c.389T>A (ASIP)	ENSP00000364092.3:p.Leu130His
ENST00000568305.5:c.389T>A (ASIP)	ENSP00000454804.1:p.Leu130His
NM_001672.2:c.389T>A (ASIP)	NP_001663.2:p.Leu130His
XM_005260412.2:c.401T>A (ASIP)	XP_005260469.1:p.Leu134His
XM_011528657.1:c.*7+11870A>T (AHCY)	XP_011526959.1:n.*7+11870A>T
XM_011528820.1:c.389T>A (ASIP)	XP_011527122.1:p.Leu130His
XM_011528821.1:c.389T>A (ASIP)	XP_011527123.1:p.Leu130His
XM_011528822.1:c.389T>A (ASIP)	XP_011527124.1:p.Leu130His
XM_011528823.1:c.389T>A (ASIP)	XP_011527125.1:p.Leu130His
XM_005260412.3:c.401T>A (ASIP)	XP_005260469.1:p.Leu134His
XM_011528657.2:c.*7+11870A>T (AHCY)	XP_011526959.2:n.*7+11870A>T
XM_011528820.2:c.389T>A (ASIP)	XP_011527122.1:p.Leu130His
NM_001385218.1:c.389T>A (ASIP)	NP_001372147.1:p.Leu130His
NM_001672.3:c.389T>A (ASIP) MANE Select	NP_001663.2:p.Leu130His