Canonical Allele Identifier: CA364716381

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73636619A>G , CM000668.2:g.73636619A>G	GRCh38
NC_000006.11:g.74346342A>G , CM000668.1:g.74346342A>G	GRCh37
NC_000006.10:g.74403063A>G	NCBI36
NG_008272.1:g.22396T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.700+2T>C MANE Select	NP_036566.1:n.700+2T>C
ENST00000355773.6:c.700+2T>C MANE Select	ENSP00000348019.5:n.700+2T>C
NM_001382629.1:c.469+2T>C	NP_001369558.1:n.469+2T>C
NM_001382630.1:c.700+2T>C	NP_001369559.1:n.700+2T>C
NM_001382631.1:c.721+2T>C	NP_001369560.1:n.721+2T>C
NM_001382632.1:c.614-1119T>C	NP_001369561.1:n.614-1119T>C
NM_001382633.1:c.700+2T>C	NP_001369562.1:n.700+2T>C
NM_001382634.1:c.700+2T>C	NP_001369563.1:n.700+2T>C
NM_001382635.1:c.697+2T>C	NP_001369564.1:n.697+2T>C
NM_001382636.1:c.383-1119T>C	NP_001369565.1:n.383-1119T>C
NM_012434.4:c.700+2T>C	NP_036566.1:n.700+2T>C
ENST00000355773.5:c.700+2T>C	ENSP00000348019.5:n.700+2T>C
ENST00000481996.1:n.466+2T>C
XM_005248710.2:c.649+2T>C	XP_005248767.1:n.649+2T>C
XM_005248711.1:c.502+2T>C	XP_005248768.1:n.502+2T>C
XM_011535750.1:c.700+2T>C	XP_011534052.1:n.700+2T>C
XM_011535751.1:c.700+2T>C	XP_011534053.1:n.700+2T>C