Canonical Allele Identifier: CA372625595

Gene: SLC39A4

Linked Data

• dbSNP Id: rs1186025498
• gnomAD v2: 8-145641388-C-T
• gnomAD v3: 8-144416004-C-T
• gnomAD v4: 8-144416004-C-T
• MyVariant Identifiers: chr8:g.145641388C>T (hg19) ; chr8:g.144416004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144416004C>T , CM000670.2:g.144416004C>T	GRCh38
NC_000008.10:g.145641388C>T , CM000670.1:g.145641388C>T	GRCh37
NC_000008.9:g.145612196C>T	NCBI36
NG_012234.2:g.5887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.280G>A MANE Select	ENSP00000301305.4:p.Ala94Thr
ENST00000276833.9:c.205G>A	ENSP00000276833.5:p.Ala69Thr
ENST00000301305.7:c.280G>A	ENSP00000301305.3:p.Ala94Thr
ENST00000526658.1:c.193-585G>A	ENSP00000434512.1:n.193-585G>A
NM_017767.2:c.205G>A	NP_060237.2:p.Ala69Thr
NM_130849.3:c.280G>A	NP_570901.2:p.Ala94Thr
XM_006716599.1:c.280G>A	XP_006716662.1:p.Ala94Thr
XM_011517153.1:c.193-585G>A	XP_011515455.1:n.193-585G>A
XM_024447188.1:c.193-585G>A	XP_024302956.1:n.193-585G>A
XM_024447189.1:c.193-585G>A	XP_024302957.1:n.193-585G>A
NM_001374839.1:c.193-585G>A	NP_001361768.1:n.193-585G>A
NM_017767.3:c.205G>A	NP_060237.3:p.Ala69Thr
NM_130849.4:c.280G>A MANE Select	NP_570901.3:p.Ala94Thr