Canonical Allele Identifier: CA140978341

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1229580
• ClinVar RCV Id: RCV001611928
• dbSNP Id: rs4708070
• gnomAD v2: 6-74354488-C-G
• gnomAD v3: 6-73644765-C-G
• gnomAD v4: 6-73644765-C-G
• MyVariant Identifiers: chr6:g.74354488C>G (hg19) ; chr6:g.73644765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644765C>G , CM000668.2:g.73644765C>G	GRCh38
NC_000006.11:g.74354488C>G , CM000668.1:g.74354488C>G	GRCh37
NC_000006.10:g.74411209C>G	NCBI36
NG_008272.1:g.14250G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.95-162G>C MANE Select	ENSP00000348019.5:n.95-162G>C
ENST00000355773.5:c.95-162G>C	ENSP00000348019.5:n.95-162G>C
NM_012434.4:c.95-162G>C	NP_036566.1:n.95-162G>C
XM_005248710.2:c.44-162G>C	XP_005248767.1:n.44-162G>C
XM_005248711.1:c.-104-162G>C	XP_005248768.1:n.-104-162G>C
XM_011535750.1:c.95-162G>C	XP_011534052.1:n.95-162G>C
XM_011535751.1:c.95-162G>C	XP_011534053.1:n.95-162G>C
NM_012434.5:c.95-162G>C MANE Select	NP_036566.1:n.95-162G>C
NM_001382629.1:c.61-2841G>C	NP_001369558.1:n.61-2841G>C
NM_001382630.1:c.95-162G>C	NP_001369559.1:n.95-162G>C
NM_001382631.1:c.116-162G>C	NP_001369560.1:n.116-162G>C
NM_001382632.1:c.95-162G>C	NP_001369561.1:n.95-162G>C
NM_001382633.1:c.95-162G>C	NP_001369562.1:n.95-162G>C
NM_001382634.1:c.95-162G>C	NP_001369563.1:n.95-162G>C
NM_001382635.1:c.95-162G>C	NP_001369564.1:n.95-162G>C
NM_001382636.1:c.61-2841G>C	NP_001369565.1:n.61-2841G>C