Canonical Allele Identifier: CA386089851

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384282T>G (hg19) ; chr12:g.95990504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990504T>G , CM000674.2:g.95990504T>G	GRCh38
NC_000012.11:g.96384282T>G , CM000674.1:g.96384282T>G	GRCh37
NC_000012.10:g.94908413T>G	NCBI36
NG_008180.1:g.10790A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.744A>C MANE Select	ENSP00000261208.3:p.Lys248Asn
ENST00000261208.7:c.744A>C	ENSP00000261208.3:p.Lys248Asn
ENST00000538703.5:c.744A>C	ENSP00000440861.1:p.Lys248Asn
ENST00000541929.5:c.120A>C	ENSP00000446364.1:p.Lys40Asn
ENST00000544080.6:c.*173A>C	ENSP00000439385.2:n.*173A>C
ENST00000546999.5:c.*173A>C	ENSP00000447675.1:n.*173A>C
ENST00000549376.1:n.137A>C
ENST00000551562.1:n.4A>C
ENST00000552509.5:c.708A>C	ENSP00000450372.1:p.Lys236Asn
NM_001258333.1:c.120A>C	NP_001245262.1:p.Lys40Asn
NM_001258334.1:c.744A>C	NP_001245263.1:p.Lys248Asn
NM_002108.3:c.744A>C	NP_002099.1:p.Lys248Asn
XM_011538249.1:c.3+2176A>C	XP_011536551.1:n.3+2176A>C
XM_011538249.2:c.3+2176A>C	XP_011536551.1:n.3+2176A>C
NM_002108.4:c.744A>C MANE Select	NP_002099.1:p.Lys248Asn
NM_001258334.2:c.744A>C	NP_001245263.1:p.Lys248Asn
NM_001258333.2:c.120A>C	NP_001245262.1:p.Lys40Asn