Canonical Allele Identifier: CA354077026

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120647009C>G , CM000665.2:g.120647009C>G	GRCh38
NC_000003.11:g.120365856C>G , CM000665.1:g.120365856C>G	GRCh37
NC_000003.10:g.121848546C>G	NCBI36
NG_011957.1:g.40473G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.513G>C MANE Select	NP_000178.2:p.Lys171Asn
ENST00000283871.10:c.513G>C MANE Select	ENSP00000283871.5:p.Lys171Asn
NM_000187.3:c.513G>C	NP_000178.2:p.Lys171Asn
ENST00000283871.9:c.513G>C	ENSP00000283871.5:p.Lys171Asn
ENST00000475447.2:c.44G>C
ENST00000476082.2:c.390G>C	ENSP00000419560.2:p.Lys130Asn
ENST00000492108.5:c.144G>C	ENSP00000419838.1:p.Lys48Asn
XM_005247412.1:c.513G>C	XP_005247469.1:p.Lys171Asn
XM_005247412.2:c.513G>C	XP_005247469.1:p.Lys171Asn
XM_005247413.1:c.513G>C	XP_005247470.1:p.Lys171Asn
XM_005247413.2:c.513G>C	XP_005247470.1:p.Lys171Asn
XM_005247414.3:c.513G>C	XP_005247471.1:p.Lys171Asn
XM_005247414.5:c.513G>C	XP_005247471.1:p.Lys171Asn
XM_011512746.1:c.513G>C	XP_011511048.1:p.Lys171Asn
XM_011512746.2:c.513G>C	XP_011511048.1:p.Lys171Asn
XM_017006277.2:c.90G>C	XP_016861766.1:p.Lys30Asn