Canonical Allele Identifier: CA372621321

Gene: SLC39A4

Linked Data

• MyVariant Identifiers: chr8:g.145639771C>G (hg19) ; chr8:g.144414387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414387C>G , CM000670.2:g.144414387C>G	GRCh38
NC_000008.10:g.145639771C>G , CM000670.1:g.145639771C>G	GRCh37
NC_000008.9:g.145610579C>G	NCBI36
NG_012234.2:g.7504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1024G>C MANE Select	ENSP00000301305.4:p.Val342Leu
ENST00000276833.9:c.949G>C	ENSP00000276833.5:p.Val317Leu
ENST00000301305.7:c.1024G>C	ENSP00000301305.3:p.Val342Leu
NM_017767.2:c.949G>C	NP_060237.2:p.Val317Leu
NM_130849.3:c.1024G>C	NP_570901.2:p.Val342Leu
XM_006716599.1:c.1024G>C	XP_006716662.1:p.Val342Leu
XM_011517153.1:c.742G>C	XP_011515455.1:p.Val248Leu
XM_024447188.1:c.742G>C	XP_024302956.1:p.Val248Leu
XM_024447189.1:c.742G>C	XP_024302957.1:p.Val248Leu
NM_001374839.1:c.742G>C	NP_001361768.1:p.Val248Leu
NM_017767.3:c.949G>C	NP_060237.3:p.Val317Leu
NM_130849.4:c.1024G>C MANE Select	NP_570901.3:p.Val342Leu