Canonical Allele Identifier: CA364718182

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74351554C>A (hg19) ; chr6:g.73641831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641831C>A , CM000668.2:g.73641831C>A	GRCh38
NC_000006.11:g.74351554C>A , CM000668.1:g.74351554C>A	GRCh37
NC_000006.10:g.74408275C>A	NCBI36
NG_008272.1:g.17184G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.385G>T MANE Select	ENSP00000348019.5:p.Val129Phe
ENST00000355773.5:c.385G>T	ENSP00000348019.5:p.Val129Phe
ENST00000481996.1:n.151G>T
NM_012434.4:c.385G>T	NP_036566.1:p.Val129Phe
XM_005248710.2:c.334G>T	XP_005248767.1:p.Val112Phe
XM_005248711.1:c.187G>T	XP_005248768.1:p.Val63Phe
XM_011535750.1:c.385G>T	XP_011534052.1:p.Val129Phe
XM_011535751.1:c.385G>T	XP_011534053.1:p.Val129Phe
NM_012434.5:c.385G>T MANE Select	NP_036566.1:p.Val129Phe
NM_001382629.1:c.154G>T	NP_001369558.1:p.Val52Phe
NM_001382630.1:c.385G>T	NP_001369559.1:p.Val129Phe
NM_001382631.1:c.406G>T	NP_001369560.1:p.Val136Phe
NM_001382632.1:c.385G>T	NP_001369561.1:p.Val129Phe
NM_001382633.1:c.385G>T	NP_001369562.1:p.Val129Phe
NM_001382634.1:c.385G>T	NP_001369563.1:p.Val129Phe
NM_001382635.1:c.385G>T	NP_001369564.1:p.Val129Phe
NM_001382636.1:c.154G>T	NP_001369565.1:p.Val52Phe