Canonical Allele Identifier: CA2564582554

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641452A>G , CM000668.2:g.73641452A>G	GRCh38
NC_000006.11:g.74351175A>G , CM000668.1:g.74351175A>G	GRCh37
NC_000006.10:g.74407896A>G	NCBI36
NG_008272.1:g.17563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.525+239T>C MANE Select	ENSP00000348019.5:n.525+239T>C
ENST00000355773.5:c.525+239T>C	ENSP00000348019.5:n.525+239T>C
ENST00000481996.1:n.291+239T>C
NM_012434.4:c.525+239T>C	NP_036566.1:n.525+239T>C
XM_005248710.2:c.474+239T>C	XP_005248767.1:n.474+239T>C
XM_005248711.1:c.327+239T>C	XP_005248768.1:n.327+239T>C
XM_011535750.1:c.525+239T>C	XP_011534052.1:n.525+239T>C
XM_011535751.1:c.525+239T>C	XP_011534053.1:n.525+239T>C
NM_012434.5:c.525+239T>C MANE Select	NP_036566.1:n.525+239T>C
NM_001382629.1:c.294+239T>C	NP_001369558.1:n.294+239T>C
NM_001382630.1:c.525+239T>C	NP_001369559.1:n.525+239T>C
NM_001382631.1:c.546+239T>C	NP_001369560.1:n.546+239T>C
NM_001382632.1:c.525+239T>C	NP_001369561.1:n.525+239T>C
NM_001382633.1:c.525+239T>C	NP_001369562.1:n.525+239T>C
NM_001382634.1:c.525+239T>C	NP_001369563.1:n.525+239T>C
NM_001382635.1:c.525+239T>C	NP_001369564.1:n.525+239T>C
NM_001382636.1:c.294+239T>C	NP_001369565.1:n.294+239T>C