Canonical Allele Identifier: CA386086588

Gene: HAL

Linked Data

• gnomAD v4: 12-95980862-A-G
• MyVariant Identifiers: chr12:g.96374640A>G (hg19) ; chr12:g.95980862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980862A>G , CM000674.2:g.95980862A>G	GRCh38
NC_000012.11:g.96374640A>G , CM000674.1:g.96374640A>G	GRCh37
NC_000012.10:g.94898771A>G	NCBI36
NG_008180.1:g.20432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1289T>C MANE Select	ENSP00000261208.3:p.Met430Thr
ENST00000261208.7:c.1289T>C	ENSP00000261208.3:p.Met430Thr
ENST00000538703.5:c.1289T>C	ENSP00000440861.1:p.Met430Thr
ENST00000541929.5:c.665T>C	ENSP00000446364.1:p.Met222Thr
ENST00000544080.6:c.*718T>C	ENSP00000439385.2:n.*718T>C
ENST00000546999.5:c.*718T>C	ENSP00000447675.1:n.*718T>C
NM_001258333.1:c.665T>C	NP_001245262.1:p.Met222Thr
NM_001258334.1:c.1289T>C	NP_001245263.1:p.Met430Thr
NM_002108.3:c.1289T>C	NP_002099.1:p.Met430Thr
XM_011538249.1:c.437T>C	XP_011536551.1:p.Met146Thr
XM_011538249.2:c.437T>C	XP_011536551.1:p.Met146Thr
XM_017019246.1:c.359T>C	XP_016874735.1:p.Met120Thr
NM_002108.4:c.1289T>C MANE Select	NP_002099.1:p.Met430Thr
NM_001258334.2:c.1289T>C	NP_001245263.1:p.Met430Thr
NM_001258333.2:c.665T>C	NP_001245262.1:p.Met222Thr