Canonical Allele Identifier: CA241419164

Gene: HAL

Linked Data

• dbSNP Id: rs1041455811
• gnomAD v2: 12-96383934-G-C
• gnomAD v3: 12-95990156-G-C
• gnomAD v4: 12-95990156-G-C
• MyVariant Identifiers: chr12:g.96383934G>C (hg19) ; chr12:g.95990156G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990156G>C , CM000674.2:g.95990156G>C	GRCh38
NC_000012.11:g.96383934G>C , CM000674.1:g.96383934G>C	GRCh37
NC_000012.10:g.94908065G>C	NCBI36
NG_008180.1:g.11138C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.855+237C>G MANE Select	ENSP00000261208.3:n.855+237C>G
ENST00000261208.7:c.855+237C>G	ENSP00000261208.3:n.855+237C>G
ENST00000538703.5:c.855+237C>G	ENSP00000440861.1:n.855+237C>G
ENST00000541929.5:c.231+237C>G	ENSP00000446364.1:n.231+237C>G
ENST00000544080.6:c.*284+237C>G	ENSP00000439385.2:n.*284+237C>G
ENST00000546999.5:c.*284+237C>G	ENSP00000447675.1:n.*284+237C>G
ENST00000551562.1:n.115+237C>G
ENST00000552509.5:c.819+237C>G	ENSP00000450372.1:n.819+237C>G
NM_001258333.1:c.231+237C>G	NP_001245262.1:n.231+237C>G
NM_001258334.1:c.855+237C>G	NP_001245263.1:n.855+237C>G
NM_002108.3:c.855+237C>G	NP_002099.1:n.855+237C>G
XM_011538249.1:c.4-1916C>G	XP_011536551.1:n.4-1916C>G
XM_011538249.2:c.4-1916C>G	XP_011536551.1:n.4-1916C>G
XM_017019246.1:c.-390C>G	XP_016874735.1:n.-390C>G
NM_002108.4:c.855+237C>G MANE Select	NP_002099.1:n.855+237C>G
NM_001258334.2:c.855+237C>G	NP_001245263.1:n.855+237C>G
NM_001258333.2:c.231+237C>G	NP_001245262.1:n.231+237C>G