Canonical Allele Identifier: CA386089649

Gene: HAL

Linked Data

• dbSNP Id: rs140891326
• gnomAD v2: 12-96384185-C-G
• gnomAD v4: 12-95990407-C-G
• MyVariant Identifiers: chr12:g.96384185C>G (hg19) ; chr12:g.95990407C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990407C>G , CM000674.2:g.95990407C>G	GRCh38
NC_000012.11:g.96384185C>G , CM000674.1:g.96384185C>G	GRCh37
NC_000012.10:g.94908316C>G	NCBI36
NG_008180.1:g.10887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.841G>C MANE Select	ENSP00000261208.3:p.Ala281Pro
ENST00000261208.7:c.841G>C	ENSP00000261208.3:p.Ala281Pro
ENST00000538703.5:c.841G>C	ENSP00000440861.1:p.Ala281Pro
ENST00000541929.5:c.217G>C	ENSP00000446364.1:p.Ala73Pro
ENST00000544080.6:c.*270G>C	ENSP00000439385.2:n.*270G>C
ENST00000546999.5:c.*270G>C	ENSP00000447675.1:n.*270G>C
ENST00000549376.1:n.234G>C
ENST00000551562.1:n.101G>C
ENST00000552509.5:c.805G>C	ENSP00000450372.1:p.Ala269Pro
NM_001258333.1:c.217G>C	NP_001245262.1:p.Ala73Pro
NM_001258334.1:c.841G>C	NP_001245263.1:p.Ala281Pro
NM_002108.3:c.841G>C	NP_002099.1:p.Ala281Pro
XM_011538249.1:c.4-2167G>C	XP_011536551.1:n.4-2167G>C
XM_011538249.2:c.4-2167G>C	XP_011536551.1:n.4-2167G>C
NM_002108.4:c.841G>C MANE Select	NP_002099.1:p.Ala281Pro
NM_001258334.2:c.841G>C	NP_001245263.1:p.Ala281Pro
NM_001258333.2:c.217G>C	NP_001245262.1:p.Ala73Pro