Canonical Allele Identifier: CA545608554

Gene: HGD

Linked Data

• dbSNP Id: rs1324743131
• gnomAD v2: 3-120357103-G-A
• gnomAD v3: 3-120638256-G-A
• gnomAD v4: 3-120638256-G-A
• MyVariant Identifiers: chr3:g.120357103G>A (hg19) ; chr3:g.120638256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638256G>A , CM000665.2:g.120638256G>A	GRCh38
NC_000003.11:g.120357103G>A , CM000665.1:g.120357103G>A	GRCh37
NC_000003.10:g.121839793G>A	NCBI36
NG_011957.1:g.49226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1006+199C>T MANE Select	ENSP00000283871.5:n.1006+199C>T
ENST00000283871.9:c.1006+199C>T	ENSP00000283871.5:n.1006+199C>T
ENST00000470321.1:n.346+199C>T
ENST00000475447.2:c.307+3333C>T
ENST00000492108.5:c.285+3333C>T	ENSP00000419838.1:n.285+3333C>T
ENST00000494453.1:c.426+199C>T
NM_000187.3:c.1006+199C>T	NP_000178.2:n.1006+199C>T
XM_005247412.1:c.781+199C>T	XP_005247469.1:n.781+199C>T
XM_005247413.1:c.1006+199C>T	XP_005247470.1:n.1006+199C>T
XM_011512746.1:c.879+3333C>T	XP_011511048.1:n.879+3333C>T
XM_005247412.2:c.781+199C>T	XP_005247469.1:n.781+199C>T
XM_005247413.2:c.1006+199C>T	XP_005247470.1:n.1006+199C>T
XM_011512746.2:c.879+3333C>T	XP_011511048.1:n.879+3333C>T
XM_017006277.2:c.583+199C>T	XP_016861766.1:n.583+199C>T
NM_000187.4:c.1006+199C>T MANE Select	NP_000178.2:n.1006+199C>T