Canonical Allele Identifier: CA386089684

Gene: HAL

Linked Data

• gnomAD v4: 12-95990424-G-C
• MyVariant Identifiers: chr12:g.96384202G>C (hg19) ; chr12:g.95990424G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990424G>C , CM000674.2:g.95990424G>C	GRCh38
NC_000012.11:g.96384202G>C , CM000674.1:g.96384202G>C	GRCh37
NC_000012.10:g.94908333G>C	NCBI36
NG_008180.1:g.10870C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.824C>G MANE Select	ENSP00000261208.3:p.Ser275Cys
ENST00000261208.7:c.824C>G	ENSP00000261208.3:p.Ser275Cys
ENST00000538703.5:c.824C>G	ENSP00000440861.1:p.Ser275Cys
ENST00000541929.5:c.200C>G	ENSP00000446364.1:p.Ser67Cys
ENST00000544080.6:c.*253C>G	ENSP00000439385.2:n.*253C>G
ENST00000546999.5:c.*253C>G	ENSP00000447675.1:n.*253C>G
ENST00000549376.1:n.217C>G
ENST00000551562.1:n.84C>G
ENST00000552509.5:c.788C>G	ENSP00000450372.1:p.Ser263Cys
NM_001258333.1:c.200C>G	NP_001245262.1:p.Ser67Cys
NM_001258334.1:c.824C>G	NP_001245263.1:p.Ser275Cys
NM_002108.3:c.824C>G	NP_002099.1:p.Ser275Cys
XM_011538249.1:c.4-2184C>G	XP_011536551.1:n.4-2184C>G
XM_011538249.2:c.4-2184C>G	XP_011536551.1:n.4-2184C>G
NM_002108.4:c.824C>G MANE Select	NP_002099.1:p.Ser275Cys
NM_001258334.2:c.824C>G	NP_001245263.1:p.Ser275Cys
NM_001258333.2:c.200C>G	NP_001245262.1:p.Ser67Cys