Canonical Allele Identifier: CA408659029

Gene: AHCY

Linked Data

• gnomAD v4: 20-34292403-C-G
• MyVariant Identifiers: chr20:g.32880209C>G (hg19) ; chr20:g.34292403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34292403C>G , CM000682.2:g.34292403C>G	GRCh38
NC_000020.10:g.32880209C>G , CM000682.1:g.32880209C>G	GRCh37
NC_000020.9:g.32343870C>G	NCBI36
NG_012630.1:g.24400G>C
NG_012630.2:g.24400G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000217426.7:c.400G>C MANE Select	ENSP00000217426.2:p.Asp134His
ENST00000217426.6:c.400G>C	ENSP00000217426.2:p.Asp134His
ENST00000468908.1:n.563G>C
ENST00000480653.5:n.447G>C
ENST00000538132.1:c.316G>C	ENSP00000442820.1:p.Asp106His
NM_000687.2:c.400G>C	NP_000678.1:p.Asp134His
NM_001161766.1:c.316G>C	NP_001155238.1:p.Asp106His
XM_005260316.3:c.316G>C	XP_005260373.1:p.Asp106His
XM_005260317.1:c.316G>C	XP_005260374.1:p.Asp106His
XM_011528656.1:c.316G>C	XP_011526958.1:p.Asp106His
XM_011528657.1:c.316G>C	XP_011526959.1:p.Asp106His
XM_011528658.1:c.316G>C	XP_011526960.1:p.Asp106His
XM_011528659.1:c.316G>C	XP_011526961.1:p.Asp106His
XM_011528660.1:c.316G>C	XP_011526962.1:p.Asp106His
NM_000687.3:c.400G>C	NP_000678.1:p.Asp134His
NM_001322084.1:c.316G>C	NP_001309013.1:p.Asp106His
NM_001322085.1:c.316G>C	NP_001309014.1:p.Asp106His
NM_001322086.1:c.406G>C	NP_001309015.1:p.Asp136His
NM_001362750.1:c.400G>C	NP_001349679.1:p.Asp134His
XM_005260317.2:c.316G>C	XP_005260374.1:p.Asp106His
XM_011528656.3:c.406G>C	XP_011526958.2:p.Asp136His
XM_011528657.2:c.406G>C	XP_011526959.2:p.Asp136His
XM_011528658.3:c.406G>C	XP_011526960.2:p.Asp136His
XM_017027709.2:c.400G>C	XP_016883198.1:p.Asp134His
XM_017027710.2:c.22G>C	XP_016883199.1:p.Asp8His
NM_000687.4:c.400G>C MANE Select	NP_000678.1:p.Asp134His
NM_001322084.2:c.316G>C	NP_001309013.1:p.Asp106His
NM_001322085.2:c.316G>C	NP_001309014.1:p.Asp106His
NM_001322086.2:c.406G>C	NP_001309015.1:p.Asp136His
NM_001362750.2:c.400G>C	NP_001349679.1:p.Asp134His
NM_001161766.2:c.316G>C	NP_001155238.1:p.Asp106His