Canonical Allele Identifier: CA2499219171

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 1084509
• ClinVar RCV Id: RCV001401580

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414342_144414343delinsCA , CM000670.2:g.144414342_144414343delinsCA	GRCh38
NC_000008.10:g.145639726_145639727delinsCA , CM000670.1:g.145639726_145639727delinsCA	GRCh37
NC_000008.9:g.145610534_145610535delinsCA	NCBI36
NG_012234.2:g.7548_7549delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1068_1069delinsTG MANE Select	ENSP00000301305.4:p.Thr357Ala
ENST00000276833.9:c.993_994delinsTG	ENSP00000276833.5:p.Thr332Ala
ENST00000301305.7:c.1068_1069delinsTG	ENSP00000301305.3:p.Thr357Ala
NM_017767.2:c.993_994delinsTG	NP_060237.2:p.Thr332Ala
NM_130849.3:c.1068_1069delinsTG	NP_570901.2:p.Thr357Ala
XM_006716599.1:c.1068_1069delinsTG	XP_006716662.1:p.Thr357Ala
XM_011517153.1:c.786_787delinsTG	XP_011515455.1:p.Thr263Ala
XM_024447188.1:c.786_787delinsTG	XP_024302956.1:p.Thr263Ala
XM_024447189.1:c.786_787delinsTG	XP_024302957.1:p.Thr263Ala
NM_001374839.1:c.786_787delinsTG	NP_001361768.1:p.Thr263Ala
NM_017767.3:c.993_994delinsTG	NP_060237.3:p.Thr332Ala
NM_130849.4:c.1068_1069delinsTG MANE Select	NP_570901.3:p.Thr357Ala