Canonical Allele Identifier: CA364716837

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74348195T>A (hg19) ; chr6:g.73638472T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638472T>A , CM000668.2:g.73638472T>A	GRCh38
NC_000006.11:g.74348195T>A , CM000668.1:g.74348195T>A	GRCh37
NC_000006.10:g.74404916T>A	NCBI36
NG_008272.1:g.20543A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.553A>T MANE Select	ENSP00000348019.5:p.Met185Leu
ENST00000355773.5:c.553A>T	ENSP00000348019.5:p.Met185Leu
ENST00000481996.1:n.319A>T
NM_012434.4:c.553A>T	NP_036566.1:p.Met185Leu
XM_005248710.2:c.502A>T	XP_005248767.1:p.Met168Leu
XM_005248711.1:c.355A>T	XP_005248768.1:p.Met119Leu
XM_011535750.1:c.553A>T	XP_011534052.1:p.Met185Leu
XM_011535751.1:c.553A>T	XP_011534053.1:p.Met185Leu
NM_012434.5:c.553A>T MANE Select	NP_036566.1:p.Met185Leu
NM_001382629.1:c.322A>T	NP_001369558.1:p.Met108Leu
NM_001382630.1:c.553A>T	NP_001369559.1:p.Met185Leu
NM_001382631.1:c.574A>T	NP_001369560.1:p.Met192Leu
NM_001382632.1:c.553A>T	NP_001369561.1:p.Met185Leu
NM_001382633.1:c.553A>T	NP_001369562.1:p.Met185Leu
NM_001382634.1:c.553A>T	NP_001369563.1:p.Met185Leu
NM_001382635.1:c.553A>T	NP_001369564.1:p.Met185Leu
NM_001382636.1:c.322A>T	NP_001369565.1:p.Met108Leu