Canonical Allele Identifier: CA2578168942

Gene: ELOVL6

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110105410A>T , CM000666.2:g.110105410A>T	GRCh38
NC_000004.11:g.111026566A>T , CM000666.1:g.111026566A>T	GRCh37
NC_000004.10:g.111246015A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302274.8:c.221+87T>A MANE Select	ENSP00000304736.3:n.221+87T>A
ENST00000302274.7:c.221+87T>A	ENSP00000304736.3:n.221+87T>A
ENST00000394607.7:c.221+87T>A	ENSP00000378105.3:n.221+87T>A
ENST00000503885.1:c.221+87T>A	ENSP00000426086.1:n.221+87T>A
ENST00000506461.1:n.436+87T>A
ENST00000506625.5:c.221+87T>A	ENSP00000425488.1:n.221+87T>A
ENST00000514184.5:c.221+87T>A	ENSP00000424023.1:n.221+87T>A
NM_001130721.1:c.221+87T>A	NP_001124193.1:n.221+87T>A
NM_024090.2:c.221+87T>A	NP_076995.1:n.221+87T>A
XM_011532233.1:c.221+87T>A	XP_011530535.1:n.221+87T>A
XM_011532234.1:c.221+87T>A	XP_011530536.1:n.221+87T>A
XM_011532235.1:c.-61+87T>A	XP_011530537.1:n.-61+87T>A
XM_011532233.3:c.221+87T>A	XP_011530535.1:n.221+87T>A
XM_011532234.3:c.221+87T>A	XP_011530536.1:n.221+87T>A
NM_001130721.2:c.221+87T>A	NP_001124193.1:n.221+87T>A
NM_024090.3:c.221+87T>A MANE Select	NP_076995.1:n.221+87T>A