Canonical Allele Identifier: CA354073856

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120360440T>A (hg19) ; chr3:g.120641593T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641593T>A , CM000665.2:g.120641593T>A	GRCh38
NC_000003.11:g.120360440T>A , CM000665.1:g.120360440T>A	GRCh37
NC_000003.10:g.121843130T>A	NCBI36
NG_011957.1:g.45889A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.875A>T MANE Select	ENSP00000283871.5:p.His292Leu
ENST00000283871.9:c.875A>T	ENSP00000283871.5:p.His292Leu
ENST00000470321.1:n.215A>T
ENST00000475447.2:c.303A>T
ENST00000492108.5:c.281A>T	ENSP00000419838.1:p.His94Leu
ENST00000494453.1:c.295A>T
NM_000187.3:c.875A>T	NP_000178.2:p.His292Leu
XM_005247412.1:c.650A>T	XP_005247469.1:p.His217Leu
XM_005247413.1:c.875A>T	XP_005247470.1:p.His292Leu
XM_011512746.1:c.875A>T	XP_011511048.1:p.His292Leu
XM_005247412.2:c.650A>T	XP_005247469.1:p.His217Leu
XM_005247413.2:c.875A>T	XP_005247470.1:p.His292Leu
XM_011512746.2:c.875A>T	XP_011511048.1:p.His292Leu
XM_017006277.2:c.452A>T	XP_016861766.1:p.His151Leu
NM_000187.4:c.875A>T MANE Select	NP_000178.2:p.His292Leu