Canonical Allele Identifier: CA6727421

Gene: HAL

Linked Data

• ClinVar Variation Id: 310703
• ClinVar RCV Id: RCV000321077
• dbSNP Id: rs143935341
• ExAC: 12:96370247 G / A
• gnomAD v2: 12-96370247-G-A
• gnomAD v3: 12-95976469-G-A
• gnomAD v4: 12-95976469-G-A
• MyVariant Identifiers: chr12:g.96370247G>A (hg19) ; chr12:g.95976469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95976469G>A , CM000674.2:g.95976469G>A	GRCh38
NC_000012.11:g.96370247G>A , CM000674.1:g.96370247G>A	GRCh37
NC_000012.10:g.94894378G>A	NCBI36
NG_008180.1:g.24825C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261208.8:c.1793C>T MANE Select	ENSP00000261208.3:p.Pro598Leu
ENST00000261208.7:c.1793C>T	ENSP00000261208.3:p.Pro598Leu
ENST00000538703.5:c.1763+129C>T	ENSP00000440861.1:n.1763+129C>T
ENST00000541929.5:c.1169C>T	ENSP00000446364.1:p.Pro390Leu
ENST00000544080.6:c.*1222C>T	ENSP00000439385.2:n.*1222C>T
ENST00000546999.5:c.*1205C>T	ENSP00000447675.1:n.*1205C>T
ENST00000548808.1:c.387C>T
NM_001258333.1:c.1169C>T	NP_001245262.1:p.Pro390Leu
NM_001258334.1:c.1763+129C>T	NP_001245263.1:n.1763+129C>T
NM_002108.3:c.1793C>T	NP_002099.1:p.Pro598Leu
XM_011538249.1:c.941C>T	XP_011536551.1:p.Pro314Leu
XM_011538249.2:c.941C>T	XP_011536551.1:p.Pro314Leu
XM_017019246.1:c.863C>T	XP_016874735.1:p.Pro288Leu
NM_002108.4:c.1793C>T MANE Select	NP_002099.1:p.Pro598Leu
NM_001258334.2:c.1763+129C>T	NP_001245263.1:n.1763+129C>T
NM_001258333.2:c.1169C>T	NP_001245262.1:p.Pro390Leu