Canonical Allele Identifier: CA2560155
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 342746
ClinVar RCV Id: RCV000404363
dbSNP Id: rs769000073

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120646380C>G , CM000665.2:g.120646380C>G GRCh38
NC_000003.11:g.120365227C>G , CM000665.1:g.120365227C>G GRCh37
NC_000003.10:g.121847917C>G NCBI36
NG_011957.1:g.41102G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.550-14G>C MANE Select ENSP00000283871.5:n.550-14G>C
ENST00000283871.9:c.550-14G>C ENSP00000283871.5:n.550-14G>C
ENST00000475447.2:c.81-14G>C
ENST00000492108.5:c.180+593G>C ENSP00000419838.1:n.180+593G>C
NM_000187.3:c.550-14G>C NP_000178.2:n.550-14G>C
XM_005247412.1:c.549+593G>C XP_005247469.1:n.549+593G>C
XM_005247413.1:c.550-14G>C XP_005247470.1:n.550-14G>C
XM_005247414.3:c.550-14G>C XP_005247471.1:n.550-14G>C
XM_011512746.1:c.550-14G>C XP_011511048.1:n.550-14G>C
XM_005247412.2:c.549+593G>C XP_005247469.1:n.549+593G>C
XM_005247413.2:c.550-14G>C XP_005247470.1:n.550-14G>C
XM_005247414.5:c.550-14G>C XP_005247471.1:n.550-14G>C
XM_011512746.2:c.550-14G>C XP_011511048.1:n.550-14G>C
XM_017006277.2:c.127-14G>C XP_016861766.1:n.127-14G>C
NM_000187.4:c.550-14G>C MANE Select NP_000178.2:n.550-14G>C