Canonical Allele Identifier: CA2838206428

Gene: SLC27A5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.58500445G>T , CM000681.2:g.58500445G>T	GRCh38
NC_000019.9:g.59011812G>T , CM000681.1:g.59011812G>T	GRCh37
NC_000019.8:g.63703624G>T	NCBI36
NG_047124.1:g.16621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263093.7:c.1378-16C>A MANE Select	ENSP00000263093.2:n.1378-16C>A
ENST00000263093.6:c.1378-16C>A	ENSP00000263093.2:n.1378-16C>A
ENST00000601355.1:c.1126-16C>A	ENSP00000470368.1:n.1126-16C>A
NM_012254.2:c.1378-16C>A	NP_036386.1:n.1378-16C>A
XM_011526363.1:c.1126-16C>A	XP_011524665.1:n.1126-16C>A
XM_011526364.1:c.1378-16C>A	XP_011524666.1:n.1378-16C>A
XR_936131.1:n.490+259G>T
NM_001321196.1:c.1126-16C>A	NP_001308125.1:n.1126-16C>A
XM_011526364.2:c.1378-16C>A	XP_011524666.1:n.1378-16C>A
XR_001754024.1:n.923G>T
NM_012254.3:c.1378-16C>A MANE Select	NP_036386.1:n.1378-16C>A
NM_001321196.2:c.1126-16C>A	NP_001308125.1:n.1126-16C>A