Canonical Allele Identifier: CA187646842

Gene: SLC39A4

Linked Data

• dbSNP Id: rs377147012
• gnomAD v2: 8-145639456-G-C
• gnomAD v3: 8-144414072-G-C
• gnomAD v4: 8-144414072-G-C
• MyVariant Identifiers: chr8:g.145639456G>C (hg19) ; chr8:g.144414072G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414072G>C , CM000670.2:g.144414072G>C	GRCh38
NC_000008.10:g.145639456G>C , CM000670.1:g.145639456G>C	GRCh37
NC_000008.9:g.145610264G>C	NCBI36
NG_012234.2:g.7819C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1173C>G MANE Select	ENSP00000301305.4:p.Ser391Arg
ENST00000276833.9:c.1098C>G	ENSP00000276833.5:p.Ser366Arg
ENST00000301305.7:c.1173C>G	ENSP00000301305.3:p.Ser391Arg
ENST00000531789.1:n.10C>G
NM_017767.2:c.1098C>G	NP_060237.2:p.Ser366Arg
NM_130849.3:c.1173C>G	NP_570901.2:p.Ser391Arg
XM_006716599.1:c.1173C>G	XP_006716662.1:p.Ser391Arg
XM_011517153.1:c.891C>G	XP_011515455.1:p.Ser297Arg
XM_024447188.1:c.891C>G	XP_024302956.1:p.Ser297Arg
XM_024447189.1:c.891C>G	XP_024302957.1:p.Ser297Arg
NM_001374839.1:c.891C>G	NP_001361768.1:p.Ser297Arg
NM_017767.3:c.1098C>G	NP_060237.3:p.Ser366Arg
NM_130849.4:c.1173C>G MANE Select	NP_570901.3:p.Ser391Arg