Canonical Allele Identifier: CA364713583

Gene: SLC17A5

Linked Data

• COSMIC: COSM138572
• MyVariant Identifiers: chr6:g.74331618A>G (hg19) ; chr6:g.73621895A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621895A>G , CM000668.2:g.73621895A>G	GRCh38
NC_000006.11:g.74331618A>G , CM000668.1:g.74331618A>G	GRCh37
NC_000006.10:g.74388339A>G	NCBI36
NG_008272.1:g.37120T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.887T>C MANE Select	ENSP00000348019.5:p.Val296Ala
ENST00000355773.5:c.887T>C	ENSP00000348019.5:p.Val296Ala
NM_012434.4:c.887T>C	NP_036566.1:p.Val296Ala
XM_005248710.2:c.836T>C	XP_005248767.1:p.Val279Ala
XM_005248711.1:c.689T>C	XP_005248768.1:p.Val230Ala
XM_011535750.1:c.887T>C	XP_011534052.1:p.Val296Ala
NM_012434.5:c.887T>C MANE Select	NP_036566.1:p.Val296Ala
NM_001382629.1:c.656T>C	NP_001369558.1:p.Val219Ala
NM_001382630.1:c.887T>C	NP_001369559.1:p.Val296Ala
NM_001382631.1:c.908T>C	NP_001369560.1:p.Val303Ala
NM_001382632.1:c.800T>C	NP_001369561.1:p.Val267Ala
NM_001382633.1:c.887T>C	NP_001369562.1:p.Val296Ala
NM_001382634.1:c.820-6448T>C	NP_001369563.1:n.820-6448T>C
NM_001382635.1:c.884T>C	NP_001369564.1:p.Val295Ala
NM_001382636.1:c.569T>C	NP_001369565.1:p.Val190Ala