Canonical Allele Identifier: CA354073286

Gene: HGD

Linked Data

• dbSNP Id: rs1457664495
• gnomAD v2: 3-120357306-G-T
• gnomAD v4: 3-120638459-G-T
• MyVariant Identifiers: chr3:g.120357306G>T (hg19) ; chr3:g.120638459G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638459G>T , CM000665.2:g.120638459G>T	GRCh38
NC_000003.11:g.120357306G>T , CM000665.1:g.120357306G>T	GRCh37
NC_000003.10:g.121839996G>T	NCBI36
NG_011957.1:g.49023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1002C>A MANE Select	ENSP00000283871.5:p.Tyr334Ter
ENST00000283871.9:c.1002C>A	ENSP00000283871.5:p.Tyr334Ter
ENST00000470321.1:n.342C>A
ENST00000475447.2:c.307+3130C>A
ENST00000492108.5:c.285+3130C>A	ENSP00000419838.1:n.285+3130C>A
ENST00000494453.1:c.422C>A
NM_000187.3:c.1002C>A	NP_000178.2:p.Tyr334Ter
XM_005247412.1:c.777C>A	XP_005247469.1:p.Tyr259Ter
XM_005247413.1:c.1002C>A	XP_005247470.1:p.Tyr334Ter
XM_011512746.1:c.879+3130C>A	XP_011511048.1:n.879+3130C>A
XM_005247412.2:c.777C>A	XP_005247469.1:p.Tyr259Ter
XM_005247413.2:c.1002C>A	XP_005247470.1:p.Tyr334Ter
XM_011512746.2:c.879+3130C>A	XP_011511048.1:n.879+3130C>A
XM_017006277.2:c.579C>A	XP_016861766.1:p.Tyr193Ter
NM_000187.4:c.1002C>A MANE Select	NP_000178.2:p.Tyr334Ter