Canonical Allele Identifier: CA1257033408
Gene: SLC1A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.64993776T>A , CM000664.2:g.64993776T>A GRCh38
NC_000002.11:g.65220910T>A , CM000664.1:g.65220910T>A GRCh37
NC_000002.10:g.65074414T>A NCBI36
NG_053002.1:g.10332T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234256.4:c.527+3606T>A MANE Select ENSP00000234256.3:n.527+3606T>A
ENST00000234256.3:c.527+3606T>A ENSP00000234256.3:n.527+3606T>A
ENST00000471551.5:n.131+5156T>A
ENST00000493121.5:n.144+5156T>A
ENST00000531327.5:c.-134+5156T>A ENSP00000431942.1:n.-134+5156T>A
NM_001193493.1:c.-134+5156T>A NP_001180422.1:n.-134+5156T>A
NM_003038.4:c.527+3606T>A NP_003029.2:n.527+3606T>A
XM_006712079.1:c.-134+5156T>A XP_006712142.1:n.-134+5156T>A
NM_001348406.1:c.-134+5156T>A NP_001335335.1:n.-134+5156T>A
NM_001348407.1:c.-134+5222T>A NP_001335336.1:n.-134+5222T>A
XR_002959394.1:n.563-21737A>T
XR_002959395.1:n.622-21737A>T
XR_002959396.1:n.562-22991A>T
XR_002959397.1:n.303-21737A>T
XR_002959398.1:n.562-21737A>T
XR_002959399.1:n.559-37792A>T
NM_003038.5:c.527+3606T>A MANE Select NP_003029.2:n.527+3606T>A
NM_001193493.2:c.-134+5156T>A NP_001180422.1:n.-134+5156T>A
NM_001348406.2:c.-134+5156T>A NP_001335335.1:n.-134+5156T>A
NM_001348407.2:c.-134+5222T>A NP_001335336.1:n.-134+5222T>A