Canonical Allele Identifier: CA364713180

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74331534A>G (hg19) ; chr6:g.73621811A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621811A>G , CM000668.2:g.73621811A>G	GRCh38
NC_000006.11:g.74331534A>G , CM000668.1:g.74331534A>G	GRCh37
NC_000006.10:g.74388255A>G	NCBI36
NG_008272.1:g.37204T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.971T>C MANE Select	ENSP00000348019.5:p.Val324Ala
ENST00000355773.5:c.971T>C	ENSP00000348019.5:p.Val324Ala
NM_012434.4:c.971T>C	NP_036566.1:p.Val324Ala
XM_005248710.2:c.920T>C	XP_005248767.1:p.Val307Ala
XM_005248711.1:c.773T>C	XP_005248768.1:p.Val258Ala
XM_011535750.1:c.971T>C	XP_011534052.1:p.Val324Ala
NM_012434.5:c.971T>C MANE Select	NP_036566.1:p.Val324Ala
NM_001382629.1:c.740T>C	NP_001369558.1:p.Val247Ala
NM_001382630.1:c.971T>C	NP_001369559.1:p.Val324Ala
NM_001382631.1:c.992T>C	NP_001369560.1:p.Val331Ala
NM_001382632.1:c.884T>C	NP_001369561.1:p.Val295Ala
NM_001382633.1:c.971T>C	NP_001369562.1:p.Val324Ala
NM_001382634.1:c.820-6364T>C	NP_001369563.1:n.820-6364T>C
NM_001382635.1:c.968T>C	NP_001369564.1:p.Val323Ala
NM_001382636.1:c.653T>C	NP_001369565.1:p.Val218Ala