Canonical Allele Identifier: CA2620282070

Gene: HAL

Linked Data

• gnomAD v4: 12-95990205-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990205G>C , CM000674.2:g.95990205G>C	GRCh38
NC_000012.11:g.96383983G>C , CM000674.1:g.96383983G>C	GRCh37
NC_000012.10:g.94908114G>C	NCBI36
NG_008180.1:g.11089C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.855+188C>G MANE Select	ENSP00000261208.3:n.855+188C>G
ENST00000261208.7:c.855+188C>G	ENSP00000261208.3:n.855+188C>G
ENST00000538703.5:c.855+188C>G	ENSP00000440861.1:n.855+188C>G
ENST00000541929.5:c.231+188C>G	ENSP00000446364.1:n.231+188C>G
ENST00000544080.6:c.*284+188C>G	ENSP00000439385.2:n.*284+188C>G
ENST00000546999.5:c.*284+188C>G	ENSP00000447675.1:n.*284+188C>G
ENST00000551562.1:n.115+188C>G
ENST00000552509.5:c.819+188C>G	ENSP00000450372.1:n.819+188C>G
NM_001258333.1:c.231+188C>G	NP_001245262.1:n.231+188C>G
NM_001258334.1:c.855+188C>G	NP_001245263.1:n.855+188C>G
NM_002108.3:c.855+188C>G	NP_002099.1:n.855+188C>G
XM_011538249.1:c.4-1965C>G	XP_011536551.1:n.4-1965C>G
XM_011538249.2:c.4-1965C>G	XP_011536551.1:n.4-1965C>G
XM_017019246.1:c.-439C>G	XP_016874735.1:n.-439C>G
NM_002108.4:c.855+188C>G MANE Select	NP_002099.1:n.855+188C>G
NM_001258334.2:c.855+188C>G	NP_001245263.1:n.855+188C>G
NM_001258333.2:c.231+188C>G	NP_001245262.1:n.231+188C>G