Canonical Allele Identifier: CA827965079

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1191069681
• gnomAD v4: 6-73621785-G-A
• MyVariant Identifiers: chr6:g.74331508G>A (hg19) ; chr6:g.73621785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621785G>A , CM000668.2:g.73621785G>A	GRCh38
NC_000006.11:g.74331508G>A , CM000668.1:g.74331508G>A	GRCh37
NC_000006.10:g.74388229G>A	NCBI36
NG_008272.1:g.37230C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.978+19C>T MANE Select	ENSP00000348019.5:n.978+19C>T
ENST00000355773.5:c.978+19C>T	ENSP00000348019.5:n.978+19C>T
NM_012434.4:c.978+19C>T	NP_036566.1:n.978+19C>T
XM_005248710.2:c.927+19C>T	XP_005248767.1:n.927+19C>T
XM_005248711.1:c.780+19C>T	XP_005248768.1:n.780+19C>T
XM_011535750.1:c.978+19C>T	XP_011534052.1:n.978+19C>T
NM_012434.5:c.978+19C>T MANE Select	NP_036566.1:n.978+19C>T
NM_001382629.1:c.747+19C>T	NP_001369558.1:n.747+19C>T
NM_001382630.1:c.978+19C>T	NP_001369559.1:n.978+19C>T
NM_001382631.1:c.999+19C>T	NP_001369560.1:n.999+19C>T
NM_001382632.1:c.891+19C>T	NP_001369561.1:n.891+19C>T
NM_001382633.1:c.978+19C>T	NP_001369562.1:n.978+19C>T
NM_001382634.1:c.820-6338C>T	NP_001369563.1:n.820-6338C>T
NM_001382635.1:c.975+19C>T	NP_001369564.1:n.975+19C>T
NM_001382636.1:c.660+19C>T	NP_001369565.1:n.660+19C>T