Canonical Allele Identifier: CA4941503

Gene: SLC39A4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144414853G>A , CM000670.2:g.144414853G>A	GRCh38
NC_000008.10:g.145640237G>A , CM000670.1:g.145640237G>A	GRCh37
NC_000008.9:g.145611045G>A	NCBI36
NG_012234.2:g.7038C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_130849.4:c.848C>T MANE Select	NP_570901.3:p.Ser283Leu
ENST00000301305.8:c.848C>T MANE Select	ENSP00000301305.4:p.Ser283Leu
NM_001374839.1:c.566C>T	NP_001361768.1:p.Ser189Leu
NM_017767.2:c.773C>T	NP_060237.2:p.Ser258Leu
NM_017767.3:c.773C>T	NP_060237.3:p.Ser258Leu
NM_130849.3:c.848C>T	NP_570901.2:p.Ser283Leu
ENST00000276833.9:c.773C>T	ENSP00000276833.5:p.Ser258Leu
ENST00000301305.7:c.848C>T	ENSP00000301305.3:p.Ser283Leu
XM_006716599.1:c.848C>T	XP_006716662.1:p.Ser283Leu
XM_011517153.1:c.566C>T	XP_011515455.1:p.Ser189Leu
XM_024447188.1:c.566C>T	XP_024302956.1:p.Ser189Leu
XM_024447189.1:c.566C>T	XP_024302957.1:p.Ser189Leu