Canonical Allele Identifier: CA364718382

Gene: SLC17A5

Linked Data

• dbSNP Id: rs781241076
• gnomAD v2: 6-74351643-T-A
• gnomAD v4: 6-73641920-T-A
• MyVariant Identifiers: chr6:g.74351643T>A (hg19) ; chr6:g.73641920T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641920T>A , CM000668.2:g.73641920T>A	GRCh38
NC_000006.11:g.74351643T>A , CM000668.1:g.74351643T>A	GRCh37
NC_000006.10:g.74408364T>A	NCBI36
NG_008272.1:g.17095A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.296A>T MANE Select	ENSP00000348019.5:p.Lys99Met
ENST00000355773.5:c.296A>T	ENSP00000348019.5:p.Lys99Met
ENST00000481996.1:n.62A>T
NM_012434.4:c.296A>T	NP_036566.1:p.Lys99Met
XM_005248710.2:c.245A>T	XP_005248767.1:p.Lys82Met
XM_005248711.1:c.98A>T	XP_005248768.1:p.Lys33Met
XM_011535750.1:c.296A>T	XP_011534052.1:p.Lys99Met
XM_011535751.1:c.296A>T	XP_011534053.1:p.Lys99Met
NM_012434.5:c.296A>T MANE Select	NP_036566.1:p.Lys99Met
NM_001382629.1:c.65A>T	NP_001369558.1:p.Lys22Met
NM_001382630.1:c.296A>T	NP_001369559.1:p.Lys99Met
NM_001382631.1:c.317A>T	NP_001369560.1:p.Lys106Met
NM_001382632.1:c.296A>T	NP_001369561.1:p.Lys99Met
NM_001382633.1:c.296A>T	NP_001369562.1:p.Lys99Met
NM_001382634.1:c.296A>T	NP_001369563.1:p.Lys99Met
NM_001382635.1:c.296A>T	NP_001369564.1:p.Lys99Met
NM_001382636.1:c.65A>T	NP_001369565.1:p.Lys22Met