Canonical Allele Identifier: CA386089646

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384184G>A (hg19) ; chr12:g.95990406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990406G>A , CM000674.2:g.95990406G>A	GRCh38
NC_000012.11:g.96384184G>A , CM000674.1:g.96384184G>A	GRCh37
NC_000012.10:g.94908315G>A	NCBI36
NG_008180.1:g.10888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.842C>T MANE Select	ENSP00000261208.3:p.Ala281Val
ENST00000261208.7:c.842C>T	ENSP00000261208.3:p.Ala281Val
ENST00000538703.5:c.842C>T	ENSP00000440861.1:p.Ala281Val
ENST00000541929.5:c.218C>T	ENSP00000446364.1:p.Ala73Val
ENST00000544080.6:c.*271C>T	ENSP00000439385.2:n.*271C>T
ENST00000546999.5:c.*271C>T	ENSP00000447675.1:n.*271C>T
ENST00000549376.1:n.235C>T
ENST00000551562.1:n.102C>T
ENST00000552509.5:c.806C>T	ENSP00000450372.1:p.Ala269Val
NM_001258333.1:c.218C>T	NP_001245262.1:p.Ala73Val
NM_001258334.1:c.842C>T	NP_001245263.1:p.Ala281Val
NM_002108.3:c.842C>T	NP_002099.1:p.Ala281Val
XM_011538249.1:c.4-2166C>T	XP_011536551.1:n.4-2166C>T
XM_011538249.2:c.4-2166C>T	XP_011536551.1:n.4-2166C>T
NM_002108.4:c.842C>T MANE Select	NP_002099.1:p.Ala281Val
NM_001258334.2:c.842C>T	NP_001245263.1:p.Ala281Val
NM_001258333.2:c.218C>T	NP_001245262.1:p.Ala73Val