Canonical Allele Identifier: CA408649072

Gene: ASIP AHCY

Linked Data

• gnomAD v4: 20-34269156-C-A
• MyVariant Identifiers: chr20:g.32856962C>A (hg19) ; chr20:g.34269156C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34269156C>A , CM000682.2:g.34269156C>A	GRCh38
NC_000020.10:g.32856962C>A , CM000682.1:g.32856962C>A	GRCh37
NC_000020.9:g.32320623C>A	NCBI36
NG_011439.1:g.13792C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374954.4:c.388C>A (ASIP) MANE Select	ENSP00000364092.3:p.Leu130Ile
ENST00000374954.3:c.388C>A (ASIP)	ENSP00000364092.3:p.Leu130Ile
ENST00000568305.5:c.388C>A (ASIP)	ENSP00000454804.1:p.Leu130Ile
NM_001672.2:c.388C>A (ASIP)	NP_001663.2:p.Leu130Ile
XM_005260412.2:c.400C>A (ASIP)	XP_005260469.1:p.Leu134Ile
XM_011528657.1:c.*7+11871G>T (AHCY)	XP_011526959.1:n.*7+11871G>T
XM_011528820.1:c.388C>A (ASIP)	XP_011527122.1:p.Leu130Ile
XM_011528821.1:c.388C>A (ASIP)	XP_011527123.1:p.Leu130Ile
XM_011528822.1:c.388C>A (ASIP)	XP_011527124.1:p.Leu130Ile
XM_011528823.1:c.388C>A (ASIP)	XP_011527125.1:p.Leu130Ile
XM_005260412.3:c.400C>A (ASIP)	XP_005260469.1:p.Leu134Ile
XM_011528657.2:c.*7+11871G>T (AHCY)	XP_011526959.2:n.*7+11871G>T
XM_011528820.2:c.388C>A (ASIP)	XP_011527122.1:p.Leu130Ile
NM_001385218.1:c.388C>A (ASIP)	NP_001372147.1:p.Leu130Ile
NM_001672.3:c.388C>A (ASIP) MANE Select	NP_001663.2:p.Leu130Ile