Canonical Allele Identifier: CA357982720
Gene: ELOVL6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110105566A>G , CM000666.2:g.110105566A>G GRCh38
NC_000004.11:g.111026722A>G , CM000666.1:g.111026722A>G GRCh37
NC_000004.10:g.111246171A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302274.8:c.152T>C MANE Select ENSP00000304736.3:p.Met51Thr
ENST00000302274.7:c.152T>C ENSP00000304736.3:p.Met51Thr
ENST00000394607.7:c.152T>C ENSP00000378105.3:p.Met51Thr
ENST00000503885.1:c.152T>C ENSP00000426086.1:p.Met51Thr
ENST00000506461.1:n.367T>C
ENST00000506625.5:c.152T>C ENSP00000425488.1:p.Met51Thr
ENST00000514184.5:c.152T>C ENSP00000424023.1:p.Met51Thr
NM_001130721.1:c.152T>C NP_001124193.1:p.Met51Thr
NM_024090.2:c.152T>C NP_076995.1:p.Met51Thr
XM_011532233.1:c.152T>C XP_011530535.1:p.Met51Thr
XM_011532234.1:c.152T>C XP_011530536.1:p.Met51Thr
XM_011532235.1:c.-130T>C XP_011530537.1:n.-130T>C
XM_011532233.3:c.152T>C XP_011530535.1:p.Met51Thr
XM_011532234.3:c.152T>C XP_011530536.1:p.Met51Thr
NM_001130721.2:c.152T>C NP_001124193.1:p.Met51Thr
NM_024090.3:c.152T>C MANE Select NP_076995.1:p.Met51Thr