Canonical Allele Identifier: CA463449748

Gene: SLC39A4

Linked Data

• dbSNP Id: rs1554873088
• gnomAD v2: 8-145639811-C-T
• MyVariant Identifiers: chr8:g.145639811C>T (hg19) ; chr8:g.144414427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414427C>T , CM000670.2:g.144414427C>T	GRCh38
NC_000008.10:g.145639811C>T , CM000670.1:g.145639811C>T	GRCh37
NC_000008.9:g.145610619C>T	NCBI36
NG_012234.2:g.7464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.984G>A MANE Select	ENSP00000301305.4:p.Leu328=
ENST00000276833.9:c.909G>A	ENSP00000276833.5:p.Leu303=
ENST00000301305.7:c.984G>A	ENSP00000301305.3:p.Leu328=
NM_017767.2:c.909G>A	NP_060237.2:p.Leu303=
NM_130849.3:c.984G>A	NP_570901.2:p.Leu328=
XM_006716599.1:c.984G>A	XP_006716662.1:p.Leu328=
XM_011517153.1:c.702G>A	XP_011515455.1:p.Leu234=
XM_024447188.1:c.702G>A	XP_024302956.1:p.Leu234=
XM_024447189.1:c.702G>A	XP_024302957.1:p.Leu234=
NM_001374839.1:c.702G>A	NP_001361768.1:p.Leu234=
NM_017767.3:c.909G>A	NP_060237.3:p.Leu303=
NM_130849.4:c.984G>A MANE Select	NP_570901.3:p.Leu328=