Canonical Allele Identifier: CA1638225395

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644337A= , CM000668.2:g.73644337A=	GRCh38
NC_000006.11:g.74354060A= , CM000668.1:g.74354060A=	GRCh37
NC_000006.10:g.74410781A=	NCBI36
NG_008272.1:g.14678T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.291+70T= MANE Select	ENSP00000348019.5:n.291+70T=
ENST00000355773.5:c.291+70T=	ENSP00000348019.5:n.291+70T=
ENST00000481996.1:n.57+70T=
NM_012434.4:c.291+70T=	NP_036566.1:n.291+70T=
XM_005248710.2:c.240+70T=	XP_005248767.1:n.240+70T=
XM_005248711.1:c.93+70T=	XP_005248768.1:n.93+70T=
XM_011535750.1:c.291+70T=	XP_011534052.1:n.291+70T=
XM_011535751.1:c.291+70T=	XP_011534053.1:n.291+70T=
NM_012434.5:c.291+70T= MANE Select	NP_036566.1:n.291+70T=
NM_001382629.1:c.61-2413T=	NP_001369558.1:n.61-2413T=
NM_001382630.1:c.291+70T=	NP_001369559.1:n.291+70T=
NM_001382631.1:c.312+70T=	NP_001369560.1:n.312+70T=
NM_001382632.1:c.291+70T=	NP_001369561.1:n.291+70T=
NM_001382633.1:c.291+70T=	NP_001369562.1:n.291+70T=
NM_001382634.1:c.291+70T=	NP_001369563.1:n.291+70T=
NM_001382635.1:c.291+70T=	NP_001369564.1:n.291+70T=
NM_001382636.1:c.61-2413T=	NP_001369565.1:n.61-2413T=