Canonical Allele Identifier: CA364719999

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310112T>G (hg19) ; chr6:g.73600389T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600389T>G , CM000668.2:g.73600389T>G	GRCh38
NC_000006.11:g.74310112T>G , CM000668.1:g.74310112T>G	GRCh37
NC_000006.10:g.74366833T>G	NCBI36
NG_008272.1:g.58626A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1312A>C MANE Select	ENSP00000348019.5:p.Met438Leu
ENST00000355773.5:c.1312A>C	ENSP00000348019.5:p.Met438Leu
NM_012434.4:c.1312A>C	NP_036566.1:p.Met438Leu
XM_005248710.2:c.1261A>C	XP_005248767.1:p.Met421Leu
XM_005248711.1:c.1114A>C	XP_005248768.1:p.Met372Leu
XM_011535750.1:c.1164A>C	XP_011534052.1:p.Glu388Asp
NM_012434.5:c.1312A>C MANE Select	NP_036566.1:p.Met438Leu
NM_001382629.1:c.1081A>C	NP_001369558.1:p.Met361Leu
NM_001382630.1:c.1260-5175A>C	NP_001369559.1:n.1260-5175A>C
NM_001382631.1:c.1333A>C	NP_001369560.1:p.Met445Leu
NM_001382632.1:c.1225A>C	NP_001369561.1:p.Met409Leu
NM_001382633.1:c.1312A>C	NP_001369562.1:p.Met438Leu
NM_001382634.1:c.1153A>C	NP_001369563.1:p.Met385Leu
NM_001382635.1:c.1309A>C	NP_001369564.1:p.Met437Leu
NM_001382636.1:c.994A>C	NP_001369565.1:p.Met332Leu