Canonical Allele Identifier: CA407946394

Gene: SLC27A5

Linked Data

• ClinVar Variation Id: 499339
• ClinVar RCV Id: RCV000597621
• dbSNP Id: rs761615269
• MyVariant Identifiers: chr19:g.59010046C>G (hg19) ; chr19:g.58498679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.58498679C>G , CM000681.2:g.58498679C>G	GRCh38
NC_000019.9:g.59010046C>G , CM000681.1:g.59010046C>G	GRCh37
NC_000019.8:g.63701858C>G	NCBI36
NG_047124.1:g.18387G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263093.7:c.1909G>C MANE Select	ENSP00000263093.2:p.Val637Leu
ENST00000263093.6:c.1909G>C	ENSP00000263093.2:p.Val637Leu
ENST00000594786.1:c.124G>C	ENSP00000471065.1:p.Val42Leu
ENST00000595851.5:c.124G>C	ENSP00000469512.1:p.Val42Leu
ENST00000599700.1:n.132G>C
ENST00000601355.1:c.1657G>C	ENSP00000470368.1:p.Val553Leu
ENST00000601997.1:n.371G>C
NM_012254.2:c.1909G>C	NP_036386.1:p.Val637Leu
XM_011526363.1:c.1657G>C	XP_011524665.1:p.Val553Leu
XM_011526364.1:c.1778G>C	XP_011524666.1:p.Gly593Ala
NM_001321196.1:c.1657G>C	NP_001308125.1:p.Val553Leu
XM_011526364.2:c.1778G>C	XP_011524666.1:p.Gly593Ala
NM_012254.3:c.1909G>C MANE Select	NP_036386.1:p.Val637Leu
NM_001321196.2:c.1657G>C	NP_001308125.1:p.Val553Leu