Canonical Allele Identifier: CA6727609

Gene: HAL

Linked Data

• dbSNP Id: rs749469661
• ExAC: 12:96374548 G / T
• gnomAD v2: 12-96374548-G-T
• gnomAD v4: 12-95980770-G-T
• MyVariant Identifiers: chr12:g.96374548G>T (hg19) ; chr12:g.95980770G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980770G>T , CM000674.2:g.95980770G>T	GRCh38
NC_000012.11:g.96374548G>T , CM000674.1:g.96374548G>T	GRCh37
NC_000012.10:g.94898679G>T	NCBI36
NG_008180.1:g.20524C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1353+28C>A MANE Select	ENSP00000261208.3:n.1353+28C>A
ENST00000261208.7:c.1353+28C>A	ENSP00000261208.3:n.1353+28C>A
ENST00000538703.5:c.1353+28C>A	ENSP00000440861.1:n.1353+28C>A
ENST00000541929.5:c.729+28C>A	ENSP00000446364.1:n.729+28C>A
ENST00000544080.6:c.*782+28C>A	ENSP00000439385.2:n.*782+28C>A
ENST00000546999.5:c.*765+45C>A	ENSP00000447675.1:n.*765+45C>A
NM_001258333.1:c.729+28C>A	NP_001245262.1:n.729+28C>A
NM_001258334.1:c.1353+28C>A	NP_001245263.1:n.1353+28C>A
NM_002108.3:c.1353+28C>A	NP_002099.1:n.1353+28C>A
XM_011538249.1:c.501+28C>A	XP_011536551.1:n.501+28C>A
XM_011538249.2:c.501+28C>A	XP_011536551.1:n.501+28C>A
XM_017019246.1:c.423+28C>A	XP_016874735.1:n.423+28C>A
NM_002108.4:c.1353+28C>A MANE Select	NP_002099.1:n.1353+28C>A
NM_001258334.2:c.1353+28C>A	NP_001245263.1:n.1353+28C>A
NM_001258333.2:c.729+28C>A	NP_001245262.1:n.729+28C>A