Canonical Allele Identifier: CA586164232

Gene: SLC39A4

Linked Data

• dbSNP Id: rs1554873099
• gnomAD v2: 8-145639825-G-T
• MyVariant Identifiers: chr8:g.145639825G>T (hg19) ; chr8:g.144414441G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414441G>T , CM000670.2:g.144414441G>T	GRCh38
NC_000008.10:g.145639825G>T , CM000670.1:g.145639825G>T	GRCh37
NC_000008.9:g.145610633G>T	NCBI36
NG_012234.2:g.7450C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.977-7C>A MANE Select	ENSP00000301305.4:n.977-7C>A
ENST00000276833.9:c.902-7C>A	ENSP00000276833.5:n.902-7C>A
ENST00000301305.7:c.977-7C>A	ENSP00000301305.3:n.977-7C>A
NM_017767.2:c.902-7C>A	NP_060237.2:n.902-7C>A
NM_130849.3:c.977-7C>A	NP_570901.2:n.977-7C>A
XM_006716599.1:c.977-7C>A	XP_006716662.1:n.977-7C>A
XM_011517153.1:c.695-7C>A	XP_011515455.1:n.695-7C>A
XM_024447188.1:c.695-7C>A	XP_024302956.1:n.695-7C>A
XM_024447189.1:c.695-7C>A	XP_024302957.1:n.695-7C>A
NM_001374839.1:c.695-7C>A	NP_001361768.1:n.695-7C>A
NM_017767.3:c.902-7C>A	NP_060237.3:n.902-7C>A
NM_130849.4:c.977-7C>A MANE Select	NP_570901.3:n.977-7C>A