Canonical Allele Identifier: CA10650628
Community Standard Title: NM_198129.4(LAMA3):c.9738C>T (p.Val3246=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23952991C>T , CM000680.2:g.23952991C>T GRCh38
NC_000018.9:g.21532955C>T , CM000680.1:g.21532955C>T GRCh37
NC_000018.8:g.19786953C>T NCBI36
NG_007853.2:g.268394C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.9738C>T MANE Select NP_937762.2:p.Val3246=
ENST00000313654.14:c.9738C>T MANE Select ENSP00000324532.8:p.Val3246=
NM_000227.6:c.4911C>T MANE Plus Clinical NP_000218.3:p.Val1637=
ENST00000269217.11:c.4911C>T MANE Plus Clinical ENSP00000269217.5:p.Val1637=
NM_000227.4:c.4911C>T NP_000218.3:p.Val1637=
NM_000227.5:c.4911C>T NP_000218.3:p.Val1637=
NM_001127717.2:c.9570C>T NP_001121189.2:p.Val3190=
NM_001127717.3:c.9570C>T NP_001121189.2:p.Val3190=
NM_001127717.4:c.9570C>T NP_001121189.2:p.Val3190=
NM_001127718.2:c.4743C>T NP_001121190.2:p.Val1581=
NM_001127718.3:c.4743C>T NP_001121190.2:p.Val1581=
NM_001127718.4:c.4743C>T NP_001121190.2:p.Val1581=
NM_198129.2:c.9738C>T NP_937762.2:p.Val3246=
NM_198129.3:c.9738C>T NP_937762.2:p.Val3246=
ENST00000269217.10:c.4911C>T ENSP00000269217.5:p.Val1637=
ENST00000313654.13:c.9738C>T ENSP00000324532.8:p.Val3246=
ENST00000399516.7:c.9570C>T ENSP00000382432.2:p.Val3190=
ENST00000587184.5:c.4743C>T ENSP00000466557.1:p.Val1581=
ENST00000588004.1:c.257+1214C>T
ENST00000588770.5:n.4316C>T
ENST00000649721.1:c.6333C>T ENSP00000497885.1:p.Val2111=
XM_011525978.1:c.9765C>T XP_011524280.1:p.Val3255=
XM_011525978.2:c.9765C>T XP_011524280.1:p.Val3255=
XM_011525979.1:c.9756C>T XP_011524281.1:p.Val3252=
XM_011525979.2:c.9756C>T XP_011524281.1:p.Val3252=
XM_011525980.1:c.9747C>T XP_011524282.1:p.Val3249=
XM_011525980.2:c.9747C>T XP_011524282.1:p.Val3249=
XM_011525981.1:c.9633C>T XP_011524283.1:p.Val3211=
XM_011525981.2:c.9633C>T XP_011524283.1:p.Val3211=
XM_011525982.1:c.9468C>T XP_011524284.1:p.Val3156=
XM_011525982.2:c.9468C>T XP_011524284.1:p.Val3156=
XM_017025743.1:c.7617C>T XP_016881232.1:p.Val2539=
XM_017025744.1:c.5307C>T XP_016881233.1:p.Val1769=
XR_001753199.1:n.10110C>T