Canonical Allele Identifier: CA354081970

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120393776T>G (hg19) ; chr3:g.120674929T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674929T>G , CM000665.2:g.120674929T>G	GRCh38
NC_000003.11:g.120393776T>G , CM000665.1:g.120393776T>G	GRCh37
NC_000003.10:g.121876466T>G	NCBI36
NG_011957.1:g.12553A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.148A>C MANE Select	ENSP00000283871.5:p.Thr50Pro
ENST00000283871.9:c.148A>C	ENSP00000283871.5:p.Thr50Pro
ENST00000466528.5:n.174A>C
ENST00000476082.2:c.53+863A>C	ENSP00000419560.2:n.53+863A>C
ENST00000480862.1:n.306A>C
ENST00000485313.5:n.256A>C
ENST00000488183.5:n.406A>C
NM_000187.3:c.148A>C	NP_000178.2:p.Thr50Pro
XM_005247412.1:c.148A>C	XP_005247469.1:p.Thr50Pro
XM_005247413.1:c.148A>C	XP_005247470.1:p.Thr50Pro
XM_005247414.3:c.148A>C	XP_005247471.1:p.Thr50Pro
XM_011512746.1:c.148A>C	XP_011511048.1:p.Thr50Pro
XM_005247412.2:c.148A>C	XP_005247469.1:p.Thr50Pro
XM_005247413.2:c.148A>C	XP_005247470.1:p.Thr50Pro
XM_005247414.5:c.148A>C	XP_005247471.1:p.Thr50Pro
XM_011512746.2:c.148A>C	XP_011511048.1:p.Thr50Pro
XM_017006277.2:c.-276A>C	XP_016861766.1:n.-276A>C
NM_000187.4:c.148A>C MANE Select	NP_000178.2:p.Thr50Pro