Canonical Allele Identifier: CA7706017

Gene: ADAMTSL3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84036868T>C , CM000677.2:g.84036868T>C	GRCh38
NC_000015.9:g.84705620T>C , CM000677.1:g.84705620T>C	GRCh37
NC_000015.8:g.82496624T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_207517.3:c.4850T>C MANE Select	NP_997400.2:p.Phe1617Ser
ENST00000286744.10:c.4850T>C MANE Select	ENSP00000286744.5:p.Phe1617Ser
NM_001301110.1:c.4850T>C	NP_001288039.1:p.Phe1617Ser
NM_001301110.2:c.4850T>C	NP_001288039.1:p.Phe1617Ser
NM_207517.2:c.4850T>C	NP_997400.2:p.Phe1617Ser
ENST00000286744.9:c.4850T>C	ENSP00000286744.5:p.Phe1617Ser
ENST00000567476.1:c.4850T>C	ENSP00000456313.1:p.Phe1617Ser
XM_011521821.1:c.4931T>C	XP_011520123.1:p.Phe1644Ser
XM_011521822.1:c.4931T>C	XP_011520124.1:p.Phe1644Ser
XM_011521822.2:c.4931T>C	XP_011520124.1:p.Phe1644Ser
XM_011521823.1:c.4931T>C	XP_011520125.1:p.Phe1644Ser
XM_011521823.2:c.4931T>C	XP_011520125.1:p.Phe1644Ser
XM_011521824.1:c.4931T>C	XP_011520126.1:p.Phe1644Ser
XM_011521824.2:c.4931T>C	XP_011520126.1:p.Phe1644Ser
XM_017022434.1:c.4931T>C	XP_016877923.1:p.Phe1644Ser
XM_017022435.1:c.4355T>C	XP_016877924.1:p.Phe1452Ser