Canonical Allele Identifier: CA386086524

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96374610G>A (hg19) ; chr12:g.95980832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980832G>A , CM000674.2:g.95980832G>A	GRCh38
NC_000012.11:g.96374610G>A , CM000674.1:g.96374610G>A	GRCh37
NC_000012.10:g.94898741G>A	NCBI36
NG_008180.1:g.20462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1319C>T MANE Select	ENSP00000261208.3:p.Ser440Phe
ENST00000261208.7:c.1319C>T	ENSP00000261208.3:p.Ser440Phe
ENST00000538703.5:c.1319C>T	ENSP00000440861.1:p.Ser440Phe
ENST00000541929.5:c.695C>T	ENSP00000446364.1:p.Ser232Phe
ENST00000544080.6:c.*748C>T	ENSP00000439385.2:n.*748C>T
ENST00000546999.5:c.*748C>T	ENSP00000447675.1:n.*748C>T
NM_001258333.1:c.695C>T	NP_001245262.1:p.Ser232Phe
NM_001258334.1:c.1319C>T	NP_001245263.1:p.Ser440Phe
NM_002108.3:c.1319C>T	NP_002099.1:p.Ser440Phe
XM_011538249.1:c.467C>T	XP_011536551.1:p.Ser156Phe
XM_011538249.2:c.467C>T	XP_011536551.1:p.Ser156Phe
XM_017019246.1:c.389C>T	XP_016874735.1:p.Ser130Phe
NM_002108.4:c.1319C>T MANE Select	NP_002099.1:p.Ser440Phe
NM_001258334.2:c.1319C>T	NP_001245263.1:p.Ser440Phe
NM_001258333.2:c.695C>T	NP_001245262.1:p.Ser232Phe