Canonical Allele Identifier: CA454943304

Gene: DDC

Linked Data

• MyVariant Identifiers: chr7:g.50611625A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50543927A>G , CM000669.2:g.50543927A>G	GRCh38
NC_000007.13:g.50611625A>G , CM000669.1:g.50611625A>G	GRCh37
NC_000007.12:g.50579119A>G	NCBI36
NG_008742.1:g.26530T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.159T>C MANE Select	ENSP00000403644.2:p.Phe53=
ENST00000357936.9:c.159T>C	ENSP00000350616.5:p.Phe53=
ENST00000380984.4:c.159T>C	ENSP00000370371.4:p.Phe53=
ENST00000426377.5:c.159T>C	ENSP00000395069.1:p.Phe53=
ENST00000430300.5:c.56T>C
ENST00000431062.5:c.159T>C	ENSP00000399184.1:p.Phe53=
ENST00000444124.6:c.159T>C	ENSP00000403644.2:p.Phe53=
ENST00000444733.5:c.159T>C	ENSP00000393724.1:p.Phe53=
ENST00000615193.4:c.159T>C	ENSP00000484104.1:p.Phe53=
ENST00000617822.4:c.159T>C	ENSP00000478385.1:p.Phe53=
ENST00000622873.4:c.159T>C	ENSP00000479110.1:p.Phe53=
NM_000790.3:c.159T>C	NP_000781.1:p.Phe53=
NM_001082971.1:c.159T>C	NP_001076440.1:p.Phe53=
NM_001242886.1:c.159T>C	NP_001229815.1:p.Phe53=
NM_001242887.1:c.159T>C	NP_001229816.1:p.Phe53=
NM_001242888.1:c.159T>C	NP_001229817.1:p.Phe53=
NM_001242889.1:c.159T>C	NP_001229818.1:p.Phe53=
NM_001242890.1:c.159T>C	NP_001229819.1:p.Phe53=
XM_005271745.3:c.159T>C	XP_005271802.1:p.Phe53=
XM_005271745.4:c.159T>C	XP_005271802.1:p.Phe53=
NM_001082971.2:c.159T>C MANE Select	NP_001076440.2:p.Phe53=
NM_000790.4:c.159T>C	NP_000781.2:p.Phe53=
NM_001242888.2:c.159T>C	NP_001229817.2:p.Phe53=
NM_001242890.2:c.159T>C	NP_001229819.2:p.Phe53=
NM_001242886.2:c.159T>C	NP_001229815.2:p.Phe53=
NM_001242887.2:c.159T>C	NP_001229816.2:p.Phe53=
NM_001242889.2:c.159T>C	NP_001229818.2:p.Phe53=