Canonical Allele Identifier: CA251755
Gene: ADAMTSL4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1349
ClinVar RCV Id: RCV000001414
dbSNP Id: rs118203985

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150556974T>G , CM000663.2:g.150556974T>G GRCh38
NC_000001.10:g.150529450T>G , CM000663.1:g.150529450T>G GRCh37
NC_000001.9:g.148796074T>G NCBI36
NG_012172.1:g.12553T>G

Transcript Alleles

HGVS Amino-acid change
NM_001288607.1:c.1854T>G VV NP_001275536.1:p.Tyr618Ter
NM_001288608.1:c.1854T>G VV NP_001275537.1:p.Tyr618Ter
NM_019032.5:c.1785T>G VV NP_061905.2:p.Tyr595Ter
NM_025008.4:c.1785T>G VV NP_079284.2:p.Tyr595Ter
XM_011509644.1:c.1953T>G XP_011507946.1:p.Tyr651Ter
XM_011509645.1:c.1884T>G XP_011507947.1:p.Tyr628Ter
XM_011509646.1:c.1854T>G XP_011507948.1:p.Tyr618Ter
XM_011509647.1:c.1854T>G XP_011507949.1:p.Tyr618Ter
XM_011509648.1:c.1854T>G XP_011507950.1:p.Tyr618Ter
XM_011509649.1:c.1953T>G XP_011507951.1:p.Tyr651Ter
XM_011509650.1:c.1953T>G XP_011507952.1:p.Tyr651Ter
XM_011509651.1:c.462T>G XP_011507953.1:p.Tyr154Ter
XM_011509652.1:c.462T>G XP_011507954.1:p.Tyr154Ter
XR_921844.1:n.2138T>G
XR_922133.1:n.139+719A>C
XM_011509644.3:c.1953T>G XP_011507946.1:p.Tyr651Ter
XM_011509645.3:c.1884T>G XP_011507947.1:p.Tyr628Ter
XM_011509648.3:c.1854T>G XP_011507950.1:p.Tyr618Ter
XM_011509649.3:c.1953T>G XP_011507951.1:p.Tyr651Ter
XM_011509650.3:c.1953T>G XP_011507952.1:p.Tyr651Ter
XM_011509651.2:c.462T>G XP_011507953.1:p.Tyr154Ter
XM_011509652.2:c.462T>G XP_011507954.1:p.Tyr154Ter
XM_017001506.2:c.1854T>G XP_016856995.1:p.Tyr618Ter
XM_017001507.1:c.198T>G XP_016856996.1:p.Tyr66Ter
XR_001737242.2:n.1938T>G
XR_921844.3:n.2111T>G
ENST00000271643.8:c.1785T>G ENSP00000271643.4:p.Tyr595Ter
ENST00000369038.6:c.1785T>G ENSP00000358034.2:p.Tyr595Ter
ENST00000369039.9:c.1854T>G ENSP00000358035.5:p.Tyr618Ter
ENST00000369041.9:c.1785T>G ENSP00000358037.5:p.Tyr595Ter
ENST00000622417.4:c.399T>G ENSP00000477897.1:p.Tyr133Ter