Canonical Allele Identifier: CA386086552

Gene: HAL

Linked Data

• dbSNP Id: rs754198163
• MyVariant Identifiers: chr12:g.96374624C>A (hg19) ; chr12:g.95980846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980846C>A , CM000674.2:g.95980846C>A	GRCh38
NC_000012.11:g.96374624C>A , CM000674.1:g.96374624C>A	GRCh37
NC_000012.10:g.94898755C>A	NCBI36
NG_008180.1:g.20448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1305G>T MANE Select	ENSP00000261208.3:p.Arg435Ser
ENST00000261208.7:c.1305G>T	ENSP00000261208.3:p.Arg435Ser
ENST00000538703.5:c.1305G>T	ENSP00000440861.1:p.Arg435Ser
ENST00000541929.5:c.681G>T	ENSP00000446364.1:p.Arg227Ser
ENST00000544080.6:c.*734G>T	ENSP00000439385.2:n.*734G>T
ENST00000546999.5:c.*734G>T	ENSP00000447675.1:n.*734G>T
NM_001258333.1:c.681G>T	NP_001245262.1:p.Arg227Ser
NM_001258334.1:c.1305G>T	NP_001245263.1:p.Arg435Ser
NM_002108.3:c.1305G>T	NP_002099.1:p.Arg435Ser
XM_011538249.1:c.453G>T	XP_011536551.1:p.Arg151Ser
XM_011538249.2:c.453G>T	XP_011536551.1:p.Arg151Ser
XM_017019246.1:c.375G>T	XP_016874735.1:p.Arg125Ser
NM_002108.4:c.1305G>T MANE Select	NP_002099.1:p.Arg435Ser
NM_001258334.2:c.1305G>T	NP_001245263.1:p.Arg435Ser
NM_001258333.2:c.681G>T	NP_001245262.1:p.Arg227Ser