Canonical Allele Identifier: CA817303037
Gene: LAMA4 HGNC NCBI

Linked Data

dbSNP Id: rs1257272195
MyVariant Identifiers: chr6:g.112147966T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112147966T>C , CM000668.2:g.112147966T>C GRCh38
NC_000006.11:g.112469168T>C , CM000668.1:g.112469168T>C GRCh37
NC_000006.10:g.112575861T>C NCBI36
NG_008209.1:g.111661A>G , LRG_433:g.111661A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230538.12:c.2353+191A>G MANE Select ENSP00000230538.7:n.2353+191A>G
ENST00000389463.9:c.2332+191A>G ENSP00000374114.4:n.2332+191A>G
ENST00000651860.1:c.223+191A>G ENSP00000498842.1:n.223+191A>G
ENST00000230538.11:c.2353+191A>G ENSP00000230538.7:n.2353+191A>G
ENST00000389463.8:c.2332+191A>G ENSP00000374114.4:n.2332+191A>G
ENST00000424408.6:c.2332+191A>G ENSP00000416470.2:n.2332+191A>G
ENST00000522006.5:c.2332+191A>G ENSP00000429488.1:n.2332+191A>G
ENST00000523765.1:c.765+191A>G
NM_001105206.2:c.2353+191A>G NP_001098676.2:n.2353+191A>G
NM_001105207.2:c.2332+191A>G NP_001098677.2:n.2332+191A>G
NM_002290.4:c.2332+191A>G NP_002281.3:n.2332+191A>G
XM_005266983.3:c.2353+191A>G XP_005267040.2:n.2353+191A>G
XM_005266984.3:c.2353+191A>G XP_005267041.2:n.2353+191A>G
XM_011535821.1:c.2353+191A>G XP_011534123.1:n.2353+191A>G
XM_005266983.4:c.2353+191A>G XP_005267040.2:n.2353+191A>G
XM_005266984.4:c.2353+191A>G XP_005267041.2:n.2353+191A>G
XM_017010854.2:c.2332+191A>G XP_016866343.1:n.2332+191A>G
XR_001743406.2:n.2624+191A>G
XR_001743407.2:n.2603+191A>G
XR_001744299.1:n.429-7354T>C
NM_001105206.3:c.2353+191A>G MANE Select NP_001098676.2:n.2353+191A>G
NM_001105207.3:c.2332+191A>G NP_001098677.2:n.2332+191A>G
NM_002290.5:c.2332+191A>G NP_002281.3:n.2332+191A>G