Canonical Allele Identifier: CA386086561

Gene: HAL

Linked Data

• gnomAD v4: 12-95980850-T-C
• MyVariant Identifiers: chr12:g.96374628T>C (hg19) ; chr12:g.95980850T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980850T>C , CM000674.2:g.95980850T>C	GRCh38
NC_000012.11:g.96374628T>C , CM000674.1:g.96374628T>C	GRCh37
NC_000012.10:g.94898759T>C	NCBI36
NG_008180.1:g.20444A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1301A>G MANE Select	ENSP00000261208.3:p.Asn434Ser
ENST00000261208.7:c.1301A>G	ENSP00000261208.3:p.Asn434Ser
ENST00000538703.5:c.1301A>G	ENSP00000440861.1:p.Asn434Ser
ENST00000541929.5:c.677A>G	ENSP00000446364.1:p.Asn226Ser
ENST00000544080.6:c.*730A>G	ENSP00000439385.2:n.*730A>G
ENST00000546999.5:c.*730A>G	ENSP00000447675.1:n.*730A>G
NM_001258333.1:c.677A>G	NP_001245262.1:p.Asn226Ser
NM_001258334.1:c.1301A>G	NP_001245263.1:p.Asn434Ser
NM_002108.3:c.1301A>G	NP_002099.1:p.Asn434Ser
XM_011538249.1:c.449A>G	XP_011536551.1:p.Asn150Ser
XM_011538249.2:c.449A>G	XP_011536551.1:p.Asn150Ser
XM_017019246.1:c.371A>G	XP_016874735.1:p.Asn124Ser
NM_002108.4:c.1301A>G MANE Select	NP_002099.1:p.Asn434Ser
NM_001258334.2:c.1301A>G	NP_001245263.1:p.Asn434Ser
NM_001258333.2:c.677A>G	NP_001245262.1:p.Asn226Ser