Canonical Allele Identifier: CA380315431

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436859T>A (hg19) ; chr11:g.47415308T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415308T>A , CM000673.2:g.47415308T>A	GRCh38
NC_000011.9:g.47436859T>A , CM000673.1:g.47436859T>A	GRCh37
NC_000011.8:g.47393435T>A	NCBI36
NG_017073.1:g.11814T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1061T>A MANE Select	ENSP00000354689.4:p.Leu354His
ENST00000354884.8:c.1040T>A	ENSP00000346956.4:p.Leu347His
ENST00000362021.8:c.1061T>A	ENSP00000354689.4:p.Leu354His
ENST00000524886.1:n.319T>A
ENST00000524928.1:c.*1391T>A	ENSP00000437186.1:n.*1391T>A
ENST00000527829.1:n.421T>A
ENST00000533076.5:c.*58T>A	ENSP00000434290.1:n.*58T>A
NM_001128225.2:c.1061T>A	NP_001121697.1:p.Leu354His
NM_152264.4:c.1040T>A	NP_689477.2:p.Leu347His
XM_006718381.2:c.1085T>A	XP_006718444.1:p.Leu362His
XM_006718383.2:c.977T>A	XP_006718446.1:p.Leu326His
XM_006718384.2:c.*58T>A	XP_006718447.1:n.*58T>A
XM_006718385.2:c.*58T>A	XP_006718448.1:n.*58T>A
XM_011520466.1:c.1106T>A	XP_011518768.1:p.Leu369His
XM_011520467.1:c.1061T>A	XP_011518769.1:p.Leu354His
XM_011520468.1:c.1061T>A	XP_011518770.1:p.Leu354His
XM_011520469.1:c.998T>A	XP_011518771.1:p.Leu333His
XM_011520470.1:c.953T>A	XP_011518772.1:p.Leu318His
XR_242832.1:n.1446T>A
XR_428862.2:n.1121T>A
XR_428863.2:n.1117T>A
XR_930928.1:n.1142T>A
NM_001330245.1:c.*58T>A	NP_001317174.1:n.*58T>A
NR_134854.1:n.1302T>A
XM_006718381.3:c.1085T>A	XP_006718444.1:p.Leu362His
XM_006718383.3:c.977T>A	XP_006718446.1:p.Leu326His
XM_011520468.3:c.1061T>A	XP_011518770.1:p.Leu354His
XM_011520470.2:c.953T>A	XP_011518772.1:p.Leu318His
XM_017018540.2:c.1040T>A	XP_016874029.1:p.Leu347His
XM_017018541.2:c.932T>A	XP_016874030.1:p.Leu311His
XM_024448762.1:c.1190T>A	XP_024304530.1:p.Leu397His
XR_001748027.1:n.1261T>A
XR_001748028.1:n.1243T>A
XR_428862.3:n.1121T>A
XR_428863.3:n.1117T>A
XR_930928.2:n.1142T>A
NM_001128225.3:c.1061T>A MANE Select	NP_001121697.2:p.Leu354His
NM_001330245.2:c.*58T>A	NP_001317174.2:n.*58T>A
NM_152264.5:c.1040T>A	NP_689477.3:p.Leu347His