Canonical Allele Identifier: CA364718174

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74351550G>A (hg19) ; chr6:g.73641827G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641827G>A , CM000668.2:g.73641827G>A	GRCh38
NC_000006.11:g.74351550G>A , CM000668.1:g.74351550G>A	GRCh37
NC_000006.10:g.74408271G>A	NCBI36
NG_008272.1:g.17188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.389C>T MANE Select	ENSP00000348019.5:p.Ala130Val
ENST00000355773.5:c.389C>T	ENSP00000348019.5:p.Ala130Val
ENST00000481996.1:n.155C>T
NM_012434.4:c.389C>T	NP_036566.1:p.Ala130Val
XM_005248710.2:c.338C>T	XP_005248767.1:p.Ala113Val
XM_005248711.1:c.191C>T	XP_005248768.1:p.Ala64Val
XM_011535750.1:c.389C>T	XP_011534052.1:p.Ala130Val
XM_011535751.1:c.389C>T	XP_011534053.1:p.Ala130Val
NM_012434.5:c.389C>T MANE Select	NP_036566.1:p.Ala130Val
NM_001382629.1:c.158C>T	NP_001369558.1:p.Ala53Val
NM_001382630.1:c.389C>T	NP_001369559.1:p.Ala130Val
NM_001382631.1:c.410C>T	NP_001369560.1:p.Ala137Val
NM_001382632.1:c.389C>T	NP_001369561.1:p.Ala130Val
NM_001382633.1:c.389C>T	NP_001369562.1:p.Ala130Val
NM_001382634.1:c.389C>T	NP_001369563.1:p.Ala130Val
NM_001382635.1:c.389C>T	NP_001369564.1:p.Ala130Val
NM_001382636.1:c.158C>T	NP_001369565.1:p.Ala53Val