Canonical Allele Identifier: CA380315469

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436868G>C (hg19) ; chr11:g.47415317G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415317G>C , CM000673.2:g.47415317G>C	GRCh38
NC_000011.9:g.47436868G>C , CM000673.1:g.47436868G>C	GRCh37
NC_000011.8:g.47393444G>C	NCBI36
NG_017073.1:g.11823G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1070G>C MANE Select	ENSP00000354689.4:p.Cys357Ser
ENST00000354884.8:c.1049G>C	ENSP00000346956.4:p.Cys350Ser
ENST00000362021.8:c.1070G>C	ENSP00000354689.4:p.Cys357Ser
ENST00000524886.1:n.328G>C
ENST00000524928.1:c.*1400G>C	ENSP00000437186.1:n.*1400G>C
ENST00000527829.1:n.430G>C
ENST00000533076.5:c.*67G>C	ENSP00000434290.1:n.*67G>C
NM_001128225.2:c.1070G>C	NP_001121697.1:p.Cys357Ser
NM_152264.4:c.1049G>C	NP_689477.2:p.Cys350Ser
XM_006718381.2:c.1094G>C	XP_006718444.1:p.Cys365Ser
XM_006718383.2:c.986G>C	XP_006718446.1:p.Cys329Ser
XM_006718384.2:c.*67G>C	XP_006718447.1:n.*67G>C
XM_006718385.2:c.*67G>C	XP_006718448.1:n.*67G>C
XM_011520466.1:c.1115G>C	XP_011518768.1:p.Cys372Ser
XM_011520467.1:c.1070G>C	XP_011518769.1:p.Cys357Ser
XM_011520468.1:c.1070G>C	XP_011518770.1:p.Cys357Ser
XM_011520469.1:c.1007G>C	XP_011518771.1:p.Cys336Ser
XM_011520470.1:c.962G>C	XP_011518772.1:p.Cys321Ser
XR_242832.1:n.1455G>C
XR_428862.2:n.1130G>C
XR_428863.2:n.1126G>C
XR_930928.1:n.1151G>C
NM_001330245.1:c.*67G>C	NP_001317174.1:n.*67G>C
NR_134854.1:n.1311G>C
XM_006718381.3:c.1094G>C	XP_006718444.1:p.Cys365Ser
XM_006718383.3:c.986G>C	XP_006718446.1:p.Cys329Ser
XM_011520468.3:c.1070G>C	XP_011518770.1:p.Cys357Ser
XM_011520470.2:c.962G>C	XP_011518772.1:p.Cys321Ser
XM_017018540.2:c.1049G>C	XP_016874029.1:p.Cys350Ser
XM_017018541.2:c.941G>C	XP_016874030.1:p.Cys314Ser
XM_024448762.1:c.1199G>C	XP_024304530.1:p.Cys400Ser
XR_001748027.1:n.1270G>C
XR_001748028.1:n.1252G>C
XR_428862.3:n.1130G>C
XR_428863.3:n.1126G>C
XR_930928.2:n.1151G>C
NM_001128225.3:c.1070G>C MANE Select	NP_001121697.2:p.Cys357Ser
NM_001330245.2:c.*67G>C	NP_001317174.2:n.*67G>C
NM_152264.5:c.1049G>C	NP_689477.3:p.Cys350Ser