Canonical Allele Identifier: CA7704653

Gene: ADAMTSL3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.83704405C>A , CM000677.2:g.83704405C>A	GRCh38
NC_000015.9:g.84373157C>A , CM000677.1:g.84373157C>A	GRCh37
NC_000015.8:g.82164161C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_207517.3:c.86C>A MANE Select	NP_997400.2:p.Ser29Tyr
ENST00000286744.10:c.86C>A MANE Select	ENSP00000286744.5:p.Ser29Tyr
NM_001301110.1:c.86C>A	NP_001288039.1:p.Ser29Tyr
NM_001301110.2:c.86C>A	NP_001288039.1:p.Ser29Tyr
NM_207517.2:c.86C>A	NP_997400.2:p.Ser29Tyr
ENST00000286744.9:c.86C>A	ENSP00000286744.5:p.Ser29Tyr
ENST00000561483.5:n.301C>A
ENST00000565653.1:n.97C>A
ENST00000567476.1:c.86C>A	ENSP00000456313.1:p.Ser29Tyr
ENST00000569510.5:n.301C>A
XM_011521821.1:c.86C>A	XP_011520123.1:p.Ser29Tyr
XM_011521822.1:c.86C>A	XP_011520124.1:p.Ser29Tyr
XM_011521822.2:c.86C>A	XP_011520124.1:p.Ser29Tyr
XM_011521823.1:c.86C>A	XP_011520125.1:p.Ser29Tyr
XM_011521823.2:c.86C>A	XP_011520125.1:p.Ser29Tyr
XM_011521824.1:c.86C>A	XP_011520126.1:p.Ser29Tyr
XM_011521824.2:c.86C>A	XP_011520126.1:p.Ser29Tyr
XM_011521825.1:c.86C>A	XP_011520127.1:p.Ser29Tyr
XM_011521825.2:c.86C>A	XP_011520127.1:p.Ser29Tyr
XM_017022434.1:c.86C>A	XP_016877923.1:p.Ser29Tyr
XM_017022435.1:c.-491C>A	XP_016877924.1:n.-491C>A
XM_024450000.1:c.86C>A	XP_024305768.1:p.Ser29Tyr
XR_931873.1:n.119C>A
XR_931873.2:n.301C>A