Canonical Allele Identifier: CA357982752

Gene: ELOVL6

Linked Data

• dbSNP Id: rs1389803054
• gnomAD v3: 4-110105582-C-T
• gnomAD v4: 4-110105582-C-T
• MyVariant Identifiers: chr4:g.111026738C>T (hg19) ; chr4:g.110105582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110105582C>T , CM000666.2:g.110105582C>T	GRCh38
NC_000004.11:g.111026738C>T , CM000666.1:g.111026738C>T	GRCh37
NC_000004.10:g.111246187C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302274.8:c.136G>A MANE Select	ENSP00000304736.3:p.Gly46Ser
ENST00000302274.7:c.136G>A	ENSP00000304736.3:p.Gly46Ser
ENST00000394607.7:c.136G>A	ENSP00000378105.3:p.Gly46Ser
ENST00000503885.1:c.136G>A	ENSP00000426086.1:p.Gly46Ser
ENST00000506461.1:n.351G>A
ENST00000506625.5:c.136G>A	ENSP00000425488.1:p.Gly46Ser
ENST00000514184.5:c.136G>A	ENSP00000424023.1:p.Gly46Ser
NM_001130721.1:c.136G>A	NP_001124193.1:p.Gly46Ser
NM_024090.2:c.136G>A	NP_076995.1:p.Gly46Ser
XM_011532233.1:c.136G>A	XP_011530535.1:p.Gly46Ser
XM_011532234.1:c.136G>A	XP_011530536.1:p.Gly46Ser
XM_011532235.1:c.-146G>A	XP_011530537.1:n.-146G>A
XM_011532233.3:c.136G>A	XP_011530535.1:p.Gly46Ser
XM_011532234.3:c.136G>A	XP_011530536.1:p.Gly46Ser
NM_001130721.2:c.136G>A	NP_001124193.1:p.Gly46Ser
NM_024090.3:c.136G>A MANE Select	NP_076995.1:p.Gly46Ser