Canonical Allele Identifier: CA2770363958

Gene: SLC17A3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25869050A>C , CM000668.2:g.25869050A>C	GRCh38
NC_000006.11:g.25869278A>C , CM000668.1:g.25869278A>C	GRCh37
NC_000006.10:g.25977257A>C	NCBI36
NG_032922.1:g.10194T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360657.7:c.-33-630T>G	ENSP00000353873.3:n.-33-630T>G
ENST00000361703.10:c.-33-630T>G	ENSP00000355307.6:n.-33-630T>G
ENST00000397060.8:c.-33-630T>G MANE Select	ENSP00000380250.4:n.-33-630T>G
ENST00000503922.5:n.73-630T>G
ENST00000506105.5:c.-33-630T>G	ENSP00000424729.1:n.-33-630T>G
NM_001098486.1:c.-33-630T>G	NP_001091956.1:n.-33-630T>G
NM_006632.3:c.-33-630T>G	NP_006623.2:n.-33-630T>G
NM_001098486.2:c.-33-630T>G MANE Select	NP_001091956.1:n.-33-630T>G
NM_006632.4:c.-33-630T>G	NP_006623.2:n.-33-630T>G