Canonical Allele Identifier: CA998246

Gene: SLC6A17

Linked Data

• ClinVar Variation Id: 436766
• ClinVar RCV Id: RCV000503794 ; RCV001337075
• dbSNP Id: rs143189177
• ExAC: 1:110740129 G / A
• gnomAD v2: 1-110740129-G-A
• gnomAD v3: 1-110197507-G-A
• gnomAD v4: 1-110197507-G-A
• COSMIC: COSM1332555
• MyVariant Identifiers: chr1:g.110740129G>A (hg19) ; chr1:g.110197507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.110197507G>A , CM000663.2:g.110197507G>A	GRCh38
NC_000001.10:g.110740129G>A , CM000663.1:g.110740129G>A	GRCh37
NC_000001.9:g.110541652G>A	NCBI36
NG_051945.1:g.51994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331565.5:c.1723G>A MANE Select	ENSP00000330199.3:p.Val575Met
ENST00000331565.4:c.1723G>A	ENSP00000330199.3:p.Val575Met
NM_001010898.2:c.1723G>A	NP_001010898.1:p.Val575Met
XM_006710643.1:c.1723G>A	XP_006710706.1:p.Val575Met
NM_001010898.3:c.1723G>A	NP_001010898.1:p.Val575Met
XM_006710643.2:c.1723G>A	XP_006710706.1:p.Val575Met
NM_001010898.4:c.1723G>A MANE Select	NP_001010898.1:p.Val575Met