Canonical Allele Identifier: CA10641189
Community Standard Title: NM_198129.4(LAMA3):c.5997G>A (p.Ser1999=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23899448G>A , CM000680.2:g.23899448G>A GRCh38
NC_000018.9:g.21479412G>A , CM000680.1:g.21479412G>A GRCh37
NC_000018.8:g.19733410G>A NCBI36
NG_007853.2:g.214851G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.5997G>A MANE Select NP_937762.2:p.Ser1999=
ENST00000313654.14:c.5997G>A MANE Select ENSP00000324532.8:p.Ser1999=
NM_000227.6:c.1170G>A MANE Plus Clinical NP_000218.3:p.Ser390=
ENST00000269217.11:c.1170G>A MANE Plus Clinical ENSP00000269217.5:p.Ser390=
NM_000227.4:c.1170G>A NP_000218.3:p.Ser390=
NM_000227.5:c.1170G>A NP_000218.3:p.Ser390=
NM_001127717.2:c.5836+383G>A NP_001121189.2:n.5836+383G>A
NM_001127717.3:c.5836+383G>A NP_001121189.2:n.5836+383G>A
NM_001127717.4:c.5836+383G>A NP_001121189.2:n.5836+383G>A
NM_001127718.2:c.1009+383G>A NP_001121190.2:n.1009+383G>A
NM_001127718.3:c.1009+383G>A NP_001121190.2:n.1009+383G>A
NM_001127718.4:c.1009+383G>A NP_001121190.2:n.1009+383G>A
NM_198129.2:c.5997G>A NP_937762.2:p.Ser1999=
NM_198129.3:c.5997G>A NP_937762.2:p.Ser1999=
ENST00000269217.10:c.1170G>A ENSP00000269217.5:p.Ser390=
ENST00000313654.13:c.5997G>A ENSP00000324532.8:p.Ser1999=
ENST00000399516.7:c.5836+383G>A ENSP00000382432.2:n.5836+383G>A
ENST00000586709.1:n.385G>A
ENST00000586751.5:c.775G>A
ENST00000587184.5:c.1009+383G>A ENSP00000466557.1:n.1009+383G>A
ENST00000588770.5:n.575G>A
ENST00000649721.1:c.2889G>A ENSP00000497885.1:p.Ser963=
XM_011525978.1:c.6024G>A XP_011524280.1:p.Ser2008=
XM_011525978.2:c.6024G>A XP_011524280.1:p.Ser2008=
XM_011525979.1:c.6015G>A XP_011524281.1:p.Ser2005=
XM_011525979.2:c.6015G>A XP_011524281.1:p.Ser2005=
XM_011525980.1:c.6006G>A XP_011524282.1:p.Ser2002=
XM_011525980.2:c.6006G>A XP_011524282.1:p.Ser2002=
XM_011525981.1:c.5892G>A XP_011524283.1:p.Ser1964=
XM_011525981.2:c.5892G>A XP_011524283.1:p.Ser1964=
XM_011525982.1:c.6024G>A XP_011524284.1:p.Ser2008=
XM_011525982.2:c.6024G>A XP_011524284.1:p.Ser2008=
XM_017025743.1:c.3876G>A XP_016881232.1:p.Ser1292=
XM_017025744.1:c.1566G>A XP_016881233.1:p.Ser522=
XR_001753199.1:n.6265G>A