Canonical Allele Identifier: CA115146

Gene: HAL

Linked Data

• ClinVar Variation Id: 1692
• ClinVar RCV Id: RCV000001760
• dbSNP Id: rs121434330
• gnomAD v4: 12-95987153-C-G
• MyVariant Identifiers: chr12:g.96380931C>G (hg19) ; chr12:g.95987153C>G (hg38)
• PubMed: PMID:15806399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95987153C>G , CM000674.2:g.95987153C>G	GRCh38
NC_000012.11:g.96380931C>G , CM000674.1:g.96380931C>G	GRCh37
NC_000012.10:g.94905062C>G	NCBI36
NG_008180.1:g.14141G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261208.8:c.965G>C MANE Select	ENSP00000261208.3:p.Arg322Pro
ENST00000261208.7:c.965G>C	ENSP00000261208.3:p.Arg322Pro
ENST00000538703.5:c.965G>C	ENSP00000440861.1:p.Arg322Pro
ENST00000541929.5:c.341G>C	ENSP00000446364.1:p.Arg114Pro
ENST00000544080.6:c.*394G>C	ENSP00000439385.2:n.*394G>C
ENST00000546999.5:c.*394G>C	ENSP00000447675.1:n.*394G>C
ENST00000552509.5:c.929G>C	ENSP00000450372.1:p.Arg310Pro
NM_001258333.1:c.341G>C	NP_001245262.1:p.Arg114Pro
NM_001258334.1:c.965G>C	NP_001245263.1:p.Arg322Pro
NM_002108.3:c.965G>C	NP_002099.1:p.Arg322Pro
XM_011538249.1:c.113G>C	XP_011536551.1:p.Arg38Pro
XM_011538249.2:c.113G>C	XP_011536551.1:p.Arg38Pro
XM_017019246.1:c.35G>C	XP_016874735.1:p.Arg12Pro
NM_002108.4:c.965G>C MANE Select	NP_002099.1:p.Arg322Pro
NM_001258334.2:c.965G>C	NP_001245263.1:p.Arg322Pro
NM_001258333.2:c.341G>C	NP_001245262.1:p.Arg114Pro