Canonical Allele Identifier: CA364712442

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73615449T>C , CM000668.2:g.73615449T>C	GRCh38
NC_000006.11:g.74325172T>C , CM000668.1:g.74325172T>C	GRCh37
NC_000006.10:g.74381893T>C	NCBI36
NG_008272.1:g.43566A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.979-2A>G MANE Select	NP_036566.1:n.979-2A>G
ENST00000355773.6:c.979-2A>G MANE Select	ENSP00000348019.5:n.979-2A>G
NM_001382629.1:c.748-2A>G	NP_001369558.1:n.748-2A>G
NM_001382630.1:c.979-2A>G	NP_001369559.1:n.979-2A>G
NM_001382631.1:c.1000-2A>G	NP_001369560.1:n.1000-2A>G
NM_001382632.1:c.892-2A>G	NP_001369561.1:n.892-2A>G
NM_001382633.1:c.979-2A>G	NP_001369562.1:n.979-2A>G
NM_001382634.1:c.820-2A>G	NP_001369563.1:n.820-2A>G
NM_001382635.1:c.976-2A>G	NP_001369564.1:n.976-2A>G
NM_001382636.1:c.661-2A>G	NP_001369565.1:n.661-2A>G
NM_012434.4:c.979-2A>G	NP_036566.1:n.979-2A>G
ENST00000355773.5:c.979-2A>G	ENSP00000348019.5:n.979-2A>G
XM_005248710.2:c.928-2A>G	XP_005248767.1:n.928-2A>G
XM_005248711.1:c.781-2A>G	XP_005248768.1:n.781-2A>G
XM_011535750.1:c.979-2A>G	XP_011534052.1:n.979-2A>G