Canonical Allele Identifier: CA116329

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 3537
• ClinVar RCV Id: RCV000003715 ; RCV001042457 ; RCV003415640
• dbSNP Id: rs121434287
• ExAC: 8:145640679 G / A
• gnomAD v2: 8-145640679-G-A
• gnomAD v3: 8-144415295-G-A
• gnomAD v4: 8-144415295-G-A
• MyVariant Identifiers: chr8:g.145640679G>A (hg19) ; chr8:g.144415295G>A (hg38)
• PubMed: PMID:12068297

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144415295G>A , CM000670.2:g.144415295G>A	GRCh38
NC_000008.10:g.145640679G>A , CM000670.1:g.145640679G>A	GRCh37
NC_000008.9:g.145611487G>A	NCBI36
NG_012234.2:g.6596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.599C>T MANE Select	ENSP00000301305.4:p.Pro200Leu
ENST00000276833.9:c.524C>T	ENSP00000276833.5:p.Pro175Leu
ENST00000301305.7:c.599C>T	ENSP00000301305.3:p.Pro200Leu
ENST00000526658.1:c.317C>T	ENSP00000434512.1:p.Pro106Leu
NM_017767.2:c.524C>T	NP_060237.2:p.Pro175Leu
NM_130849.3:c.599C>T	NP_570901.2:p.Pro200Leu
XM_006716599.1:c.599C>T	XP_006716662.1:p.Pro200Leu
XM_011517153.1:c.317C>T	XP_011515455.1:p.Pro106Leu
XM_024447188.1:c.317C>T	XP_024302956.1:p.Pro106Leu
XM_024447189.1:c.317C>T	XP_024302957.1:p.Pro106Leu
NM_001374839.1:c.317C>T	NP_001361768.1:p.Pro106Leu
NM_017767.3:c.524C>T	NP_060237.3:p.Pro175Leu
NM_130849.4:c.599C>T MANE Select	NP_570901.3:p.Pro200Leu