Canonical Allele Identifier: CA10638817

Gene: HAL

Linked Data

• ClinVar Variation Id: 310677
• ClinVar RCV Id: RCV000309169
• dbSNP Id: rs1059845
• gnomAD v2: 12-96366698-G-A
• gnomAD v3: 12-95972920-G-A
• gnomAD v4: 12-95972920-G-A
• MyVariant Identifiers: chr12:g.96366698G>A (hg19) ; chr12:g.95972920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95972920G>A , CM000674.2:g.95972920G>A	GRCh38
NC_000012.11:g.96366698G>A , CM000674.1:g.96366698G>A	GRCh37
NC_000012.10:g.94890829G>A	NCBI36
NG_008180.1:g.28374C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261208.8:c.*1312C>T MANE Select	ENSP00000261208.3:n.*1312C>T
ENST00000261208.7:c.*1312C>T	ENSP00000261208.3:n.*1312C>T
ENST00000541929.5:c.*1312C>T	ENSP00000446364.1:n.*1312C>T
NM_001258333.1:c.*1312C>T	NP_001245262.1:n.*1312C>T
NM_001258334.1:c.*1440C>T	NP_001245263.1:n.*1440C>T
NM_002108.3:c.*1312C>T	NP_002099.1:n.*1312C>T
XM_011538249.1:c.*1312C>T	XP_011536551.1:n.*1312C>T
XM_011538249.2:c.*1312C>T	XP_011536551.1:n.*1312C>T
XM_017019246.1:c.*1312C>T	XP_016874735.1:n.*1312C>T
NM_002108.4:c.*1312C>T MANE Select	NP_002099.1:n.*1312C>T
NM_001258334.2:c.*1440C>T	NP_001245263.1:n.*1440C>T
NM_001258333.2:c.*1312C>T	NP_001245262.1:n.*1312C>T