Canonical Allele Identifier: CA354077016

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120647007A>G , CM000665.2:g.120647007A>G	GRCh38
NC_000003.11:g.120365854A>G , CM000665.1:g.120365854A>G	GRCh37
NC_000003.10:g.121848544A>G	NCBI36
NG_011957.1:g.40475T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.515T>C MANE Select	NP_000178.2:p.Met172Thr
ENST00000283871.10:c.515T>C MANE Select	ENSP00000283871.5:p.Met172Thr
NM_000187.3:c.515T>C	NP_000178.2:p.Met172Thr
ENST00000283871.9:c.515T>C	ENSP00000283871.5:p.Met172Thr
ENST00000475447.2:c.46T>C
ENST00000476082.2:c.392T>C	ENSP00000419560.2:p.Met131Thr
ENST00000492108.5:c.146T>C	ENSP00000419838.1:p.Met49Thr
XM_005247412.1:c.515T>C	XP_005247469.1:p.Met172Thr
XM_005247412.2:c.515T>C	XP_005247469.1:p.Met172Thr
XM_005247413.1:c.515T>C	XP_005247470.1:p.Met172Thr
XM_005247413.2:c.515T>C	XP_005247470.1:p.Met172Thr
XM_005247414.3:c.515T>C	XP_005247471.1:p.Met172Thr
XM_005247414.5:c.515T>C	XP_005247471.1:p.Met172Thr
XM_011512746.1:c.515T>C	XP_011511048.1:p.Met172Thr
XM_011512746.2:c.515T>C	XP_011511048.1:p.Met172Thr
XM_017006277.2:c.92T>C	XP_016861766.1:p.Met31Thr