Canonical Allele Identifier: CA4941156

Gene: SLC39A4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144413307G>A , CM000670.2:g.144413307G>A	GRCh38
NC_000008.10:g.145638691G>A , CM000670.1:g.145638691G>A	GRCh37
NC_000008.9:g.145609499G>A	NCBI36
NG_012234.2:g.8584C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_130849.4:c.1557C>T MANE Select	NP_570901.3:p.Phe519=
ENST00000301305.8:c.1557C>T MANE Select	ENSP00000301305.4:p.Phe519=
NM_001280557.1:c.63C>T	NP_001267486.1:p.Phe21=
NM_001280557.2:c.63C>T	NP_001267486.1:p.Phe21=
NM_001374839.1:c.1275C>T	NP_001361768.1:p.Phe425=
NM_017767.2:c.1482C>T	NP_060237.2:p.Phe494=
NM_017767.3:c.1482C>T	NP_060237.3:p.Phe494=
NM_130849.3:c.1557C>T	NP_570901.2:p.Phe519=
ENST00000276833.9:c.1482C>T	ENSP00000276833.5:p.Phe494=
ENST00000301305.7:c.1557C>T	ENSP00000301305.3:p.Phe519=
ENST00000527148.5:n.142C>T
ENST00000529462.5:n.156C>T
ENST00000530807.5:n.57+206C>T
ENST00000531013.1:n.285C>T
ENST00000532718.5:n.157C>T
XM_006716599.1:c.1474+206C>T	XP_006716662.1:n.1474+206C>T
XM_011517153.1:c.1275C>T	XP_011515455.1:p.Phe425=
XM_024447188.1:c.1275C>T	XP_024302956.1:p.Phe425=
XM_024447189.1:c.1192+206C>T	XP_024302957.1:n.1192+206C>T