Canonical Allele Identifier: CA386086592

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96374641T>G (hg19) ; chr12:g.95980863T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980863T>G , CM000674.2:g.95980863T>G	GRCh38
NC_000012.11:g.96374641T>G , CM000674.1:g.96374641T>G	GRCh37
NC_000012.10:g.94898772T>G	NCBI36
NG_008180.1:g.20431A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1288A>C MANE Select	ENSP00000261208.3:p.Met430Leu
ENST00000261208.7:c.1288A>C	ENSP00000261208.3:p.Met430Leu
ENST00000538703.5:c.1288A>C	ENSP00000440861.1:p.Met430Leu
ENST00000541929.5:c.664A>C	ENSP00000446364.1:p.Met222Leu
ENST00000544080.6:c.*717A>C	ENSP00000439385.2:n.*717A>C
ENST00000546999.5:c.*717A>C	ENSP00000447675.1:n.*717A>C
NM_001258333.1:c.664A>C	NP_001245262.1:p.Met222Leu
NM_001258334.1:c.1288A>C	NP_001245263.1:p.Met430Leu
NM_002108.3:c.1288A>C	NP_002099.1:p.Met430Leu
XM_011538249.1:c.436A>C	XP_011536551.1:p.Met146Leu
XM_011538249.2:c.436A>C	XP_011536551.1:p.Met146Leu
XM_017019246.1:c.358A>C	XP_016874735.1:p.Met120Leu
NM_002108.4:c.1288A>C MANE Select	NP_002099.1:p.Met430Leu
NM_001258334.2:c.1288A>C	NP_001245263.1:p.Met430Leu
NM_001258333.2:c.664A>C	NP_001245262.1:p.Met222Leu