Canonical Allele Identifier: CA367531814

Gene: DDC

Linked Data

• MyVariant Identifiers: chr7:g.50611651C>G (hg19) ; chr7:g.50543953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50543953C>G , CM000669.2:g.50543953C>G	GRCh38
NC_000007.13:g.50611651C>G , CM000669.1:g.50611651C>G	GRCh37
NC_000007.12:g.50579145C>G	NCBI36
NG_008742.1:g.26504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.133G>C MANE Select	ENSP00000403644.2:p.Ala45Pro
ENST00000357936.9:c.133G>C	ENSP00000350616.5:p.Ala45Pro
ENST00000380984.4:c.133G>C	ENSP00000370371.4:p.Ala45Pro
ENST00000426377.5:c.133G>C	ENSP00000395069.1:p.Ala45Pro
ENST00000430300.5:c.30G>C
ENST00000431062.5:c.133G>C	ENSP00000399184.1:p.Ala45Pro
ENST00000444124.6:c.133G>C	ENSP00000403644.2:p.Ala45Pro
ENST00000444733.5:c.133G>C	ENSP00000393724.1:p.Ala45Pro
ENST00000615193.4:c.133G>C	ENSP00000484104.1:p.Ala45Pro
ENST00000617822.4:c.133G>C	ENSP00000478385.1:p.Ala45Pro
ENST00000622873.4:c.133G>C	ENSP00000479110.1:p.Ala45Pro
NM_000790.3:c.133G>C	NP_000781.1:p.Ala45Pro
NM_001082971.1:c.133G>C	NP_001076440.1:p.Ala45Pro
NM_001242886.1:c.133G>C	NP_001229815.1:p.Ala45Pro
NM_001242887.1:c.133G>C	NP_001229816.1:p.Ala45Pro
NM_001242888.1:c.133G>C	NP_001229817.1:p.Ala45Pro
NM_001242889.1:c.133G>C	NP_001229818.1:p.Ala45Pro
NM_001242890.1:c.133G>C	NP_001229819.1:p.Ala45Pro
XM_005271745.3:c.133G>C	XP_005271802.1:p.Ala45Pro
XM_005271745.4:c.133G>C	XP_005271802.1:p.Ala45Pro
NM_001082971.2:c.133G>C MANE Select	NP_001076440.2:p.Ala45Pro
NM_000790.4:c.133G>C	NP_000781.2:p.Ala45Pro
NM_001242888.2:c.133G>C	NP_001229817.2:p.Ala45Pro
NM_001242890.2:c.133G>C	NP_001229819.2:p.Ala45Pro
NM_001242886.2:c.133G>C	NP_001229815.2:p.Ala45Pro
NM_001242887.2:c.133G>C	NP_001229816.2:p.Ala45Pro
NM_001242889.2:c.133G>C	NP_001229818.2:p.Ala45Pro