Canonical Allele Identifier: CA3890573

Gene: SLC17A5

Linked Data

• dbSNP Id: rs994224076
• ExAC: 6:74354138 T / G
• gnomAD v2: 6-74354138-T-G
• gnomAD v3: 6-73644415-T-G
• gnomAD v4: 6-73644415-T-G
• MyVariant Identifiers: chr6:g.74354138T>G (hg19) ; chr6:g.74354138_74354141delinsGATG (hg19) ; chr6:g.73644415T>G (hg38) ; chr6:g.73644415_73644418delinsGATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644415T>G , CM000668.2:g.73644415T>G	GRCh38
NC_000006.11:g.74354138T>G , CM000668.1:g.74354138T>G	GRCh37
NC_000006.10:g.74410859T>G	NCBI36
NG_008272.1:g.14600A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.283A>C MANE Select	ENSP00000348019.5:p.Asn95His
ENST00000355773.5:c.283A>C	ENSP00000348019.5:p.Asn95His
ENST00000481996.1:n.49A>C
NM_012434.4:c.283A>C	NP_036566.1:p.Asn95His
XM_005248710.2:c.232A>C	XP_005248767.1:p.Asn78His
XM_005248711.1:c.85A>C	XP_005248768.1:p.Asn29His
XM_011535750.1:c.283A>C	XP_011534052.1:p.Asn95His
XM_011535751.1:c.283A>C	XP_011534053.1:p.Asn95His
NM_012434.5:c.283A>C MANE Select	NP_036566.1:p.Asn95His
NM_001382629.1:c.61-2491A>C	NP_001369558.1:n.61-2491A>C
NM_001382630.1:c.283A>C	NP_001369559.1:p.Asn95His
NM_001382631.1:c.304A>C	NP_001369560.1:p.Asn102His
NM_001382632.1:c.283A>C	NP_001369561.1:p.Asn95His
NM_001382633.1:c.283A>C	NP_001369562.1:p.Asn95His
NM_001382634.1:c.283A>C	NP_001369563.1:p.Asn95His
NM_001382635.1:c.283A>C	NP_001369564.1:p.Asn95His
NM_001382636.1:c.61-2491A>C	NP_001369565.1:n.61-2491A>C