Canonical Allele Identifier: CA313354498

Gene: AHCY

Linked Data

• dbSNP Id: rs113040289
• MyVariant Identifiers: chr20:g.32883220A>G (hg19) ; chr20:g.34295414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295414A>G , CM000682.2:g.34295414A>G	GRCh38
NC_000020.10:g.32883220A>G , CM000682.1:g.32883220A>G	GRCh37
NC_000020.9:g.32346881A>G	NCBI36
NG_012630.1:g.21389T>C
NG_012630.2:g.21389T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000217426.7:c.200T>C MANE Select	ENSP00000217426.2:p.Leu67Pro
ENST00000217426.6:c.200T>C	ENSP00000217426.2:p.Leu67Pro
ENST00000468908.1:n.363T>C
ENST00000480653.5:n.247T>C
ENST00000538132.1:c.116T>C	ENSP00000442820.1:p.Leu39Pro
ENST00000606061.1:n.287T>C
NM_000687.2:c.200T>C	NP_000678.1:p.Leu67Pro
NM_001161766.1:c.116T>C	NP_001155238.1:p.Leu39Pro
XM_005260316.3:c.116T>C	XP_005260373.1:p.Leu39Pro
XM_005260317.1:c.116T>C	XP_005260374.1:p.Leu39Pro
XM_011528656.1:c.116T>C	XP_011526958.1:p.Leu39Pro
XM_011528657.1:c.116T>C	XP_011526959.1:p.Leu39Pro
XM_011528658.1:c.116T>C	XP_011526960.1:p.Leu39Pro
XM_011528659.1:c.116T>C	XP_011526961.1:p.Leu39Pro
XM_011528660.1:c.116T>C	XP_011526962.1:p.Leu39Pro
NM_000687.3:c.200T>C	NP_000678.1:p.Leu67Pro
NM_001322084.1:c.116T>C	NP_001309013.1:p.Leu39Pro
NM_001322085.1:c.116T>C	NP_001309014.1:p.Leu39Pro
NM_001322086.1:c.206T>C	NP_001309015.1:p.Leu69Pro
NM_001362750.1:c.200T>C	NP_001349679.1:p.Leu67Pro
XM_005260317.2:c.116T>C	XP_005260374.1:p.Leu39Pro
XM_011528656.3:c.206T>C	XP_011526958.2:p.Leu69Pro
XM_011528657.2:c.206T>C	XP_011526959.2:p.Leu69Pro
XM_011528658.3:c.206T>C	XP_011526960.2:p.Leu69Pro
XM_017027709.2:c.200T>C	XP_016883198.1:p.Leu67Pro
XM_017027710.2:c.-225T>C	XP_016883199.1:n.-225T>C
NM_000687.4:c.200T>C MANE Select	NP_000678.1:p.Leu67Pro
NM_001322084.2:c.116T>C	NP_001309013.1:p.Leu39Pro
NM_001322085.2:c.116T>C	NP_001309014.1:p.Leu39Pro
NM_001322086.2:c.206T>C	NP_001309015.1:p.Leu69Pro
NM_001362750.2:c.200T>C	NP_001349679.1:p.Leu67Pro
NM_001161766.2:c.116T>C	NP_001155238.1:p.Leu39Pro