Canonical Allele Identifier: CA364713575

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73621893-C-A
• MyVariant Identifiers: chr6:g.74331616C>A (hg19) ; chr6:g.73621893C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621893C>A , CM000668.2:g.73621893C>A	GRCh38
NC_000006.11:g.74331616C>A , CM000668.1:g.74331616C>A	GRCh37
NC_000006.10:g.74388337C>A	NCBI36
NG_008272.1:g.37122G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.889G>T MANE Select	ENSP00000348019.5:p.Ala297Ser
ENST00000355773.5:c.889G>T	ENSP00000348019.5:p.Ala297Ser
NM_012434.4:c.889G>T	NP_036566.1:p.Ala297Ser
XM_005248710.2:c.838G>T	XP_005248767.1:p.Ala280Ser
XM_005248711.1:c.691G>T	XP_005248768.1:p.Ala231Ser
XM_011535750.1:c.889G>T	XP_011534052.1:p.Ala297Ser
NM_012434.5:c.889G>T MANE Select	NP_036566.1:p.Ala297Ser
NM_001382629.1:c.658G>T	NP_001369558.1:p.Ala220Ser
NM_001382630.1:c.889G>T	NP_001369559.1:p.Ala297Ser
NM_001382631.1:c.910G>T	NP_001369560.1:p.Ala304Ser
NM_001382632.1:c.802G>T	NP_001369561.1:p.Ala268Ser
NM_001382633.1:c.889G>T	NP_001369562.1:p.Ala297Ser
NM_001382634.1:c.820-6446G>T	NP_001369563.1:n.820-6446G>T
NM_001382635.1:c.886G>T	NP_001369564.1:p.Ala296Ser
NM_001382636.1:c.571G>T	NP_001369565.1:p.Ala191Ser