Canonical Allele Identifier: CA2056500001

Gene: HAL

Linked Data

• dbSNP Id: rs1565987074
• gnomAD v4: 12-95980767-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980767T>C , CM000674.2:g.95980767T>C	GRCh38
NC_000012.11:g.96374545T>C , CM000674.1:g.96374545T>C	GRCh37
NC_000012.10:g.94898676T>C	NCBI36
NG_008180.1:g.20527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1353+31A>G MANE Select	ENSP00000261208.3:n.1353+31A>G
ENST00000261208.7:c.1353+31A>G	ENSP00000261208.3:n.1353+31A>G
ENST00000538703.5:c.1353+31A>G	ENSP00000440861.1:n.1353+31A>G
ENST00000541929.5:c.729+31A>G	ENSP00000446364.1:n.729+31A>G
ENST00000544080.6:c.*782+31A>G	ENSP00000439385.2:n.*782+31A>G
ENST00000546999.5:c.*766-46A>G	ENSP00000447675.1:n.*766-46A>G
NM_001258333.1:c.729+31A>G	NP_001245262.1:n.729+31A>G
NM_001258334.1:c.1353+31A>G	NP_001245263.1:n.1353+31A>G
NM_002108.3:c.1353+31A>G	NP_002099.1:n.1353+31A>G
XM_011538249.1:c.501+31A>G	XP_011536551.1:n.501+31A>G
XM_011538249.2:c.501+31A>G	XP_011536551.1:n.501+31A>G
XM_017019246.1:c.423+31A>G	XP_016874735.1:n.423+31A>G
NM_002108.4:c.1353+31A>G MANE Select	NP_002099.1:n.1353+31A>G
NM_001258334.2:c.1353+31A>G	NP_001245263.1:n.1353+31A>G
NM_001258333.2:c.729+31A>G	NP_001245262.1:n.729+31A>G