Canonical Allele Identifier: CA354074054

Gene: HGD

Linked Data

• ClinVar Variation Id: 2627719
• ClinVar RCV Id: RCV003389013
• gnomAD v4: 3-120641681-A-G
• MyVariant Identifiers: chr3:g.120360528A>G (hg19) ; chr3:g.120641681A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641681A>G , CM000665.2:g.120641681A>G	GRCh38
NC_000003.11:g.120360528A>G , CM000665.1:g.120360528A>G	GRCh37
NC_000003.10:g.121843218A>G	NCBI36
NG_011957.1:g.45801T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.787T>C MANE Select	ENSP00000283871.5:p.Phe263Leu
ENST00000283871.9:c.787T>C	ENSP00000283871.5:p.Phe263Leu
ENST00000470321.1:n.127T>C
ENST00000475447.2:c.215T>C
ENST00000492108.5:c.193T>C	ENSP00000419838.1:p.Phe65Leu
ENST00000494453.1:c.207T>C
NM_000187.3:c.787T>C	NP_000178.2:p.Phe263Leu
XM_005247412.1:c.562T>C	XP_005247469.1:p.Phe188Leu
XM_005247413.1:c.787T>C	XP_005247470.1:p.Phe263Leu
XM_011512746.1:c.787T>C	XP_011511048.1:p.Phe263Leu
XM_005247412.2:c.562T>C	XP_005247469.1:p.Phe188Leu
XM_005247413.2:c.787T>C	XP_005247470.1:p.Phe263Leu
XM_011512746.2:c.787T>C	XP_011511048.1:p.Phe263Leu
XM_017006277.2:c.364T>C	XP_016861766.1:p.Phe122Leu
NM_000187.4:c.787T>C MANE Select	NP_000178.2:p.Phe263Leu