Canonical Allele Identifier: CA386086507

Gene: HAL

Linked Data

• gnomAD v4: 12-95980823-T-C
• MyVariant Identifiers: chr12:g.96374601T>C (hg19) ; chr12:g.95980823T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980823T>C , CM000674.2:g.95980823T>C	GRCh38
NC_000012.11:g.96374601T>C , CM000674.1:g.96374601T>C	GRCh37
NC_000012.10:g.94898732T>C	NCBI36
NG_008180.1:g.20471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1328A>G MANE Select	ENSP00000261208.3:p.Asn443Ser
ENST00000261208.7:c.1328A>G	ENSP00000261208.3:p.Asn443Ser
ENST00000538703.5:c.1328A>G	ENSP00000440861.1:p.Asn443Ser
ENST00000541929.5:c.704A>G	ENSP00000446364.1:p.Asn235Ser
ENST00000544080.6:c.*757A>G	ENSP00000439385.2:n.*757A>G
ENST00000546999.5:c.*757A>G	ENSP00000447675.1:n.*757A>G
NM_001258333.1:c.704A>G	NP_001245262.1:p.Asn235Ser
NM_001258334.1:c.1328A>G	NP_001245263.1:p.Asn443Ser
NM_002108.3:c.1328A>G	NP_002099.1:p.Asn443Ser
XM_011538249.1:c.476A>G	XP_011536551.1:p.Asn159Ser
XM_011538249.2:c.476A>G	XP_011536551.1:p.Asn159Ser
XM_017019246.1:c.398A>G	XP_016874735.1:p.Asn133Ser
NM_002108.4:c.1328A>G MANE Select	NP_002099.1:p.Asn443Ser
NM_001258334.2:c.1328A>G	NP_001245263.1:p.Asn443Ser
NM_001258333.2:c.704A>G	NP_001245262.1:p.Asn235Ser