Canonical Allele Identifier: CA8916871
Community Standard Title: NM_198129.4(LAMA3):c.8193G>C (p.Thr2731=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23928138G>C , CM000680.2:g.23928138G>C GRCh38
NC_000018.9:g.21508102G>C , CM000680.1:g.21508102G>C GRCh37
NC_000018.8:g.19762100G>C NCBI36
NG_007853.2:g.243541G>C

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.8193G>C MANE Select NP_937762.2:p.Thr2731=
ENST00000313654.14:c.8193G>C MANE Select ENSP00000324532.8:p.Thr2731=
NM_000227.6:c.3366G>C MANE Plus Clinical NP_000218.3:p.Thr1122=
ENST00000269217.11:c.3366G>C MANE Plus Clinical ENSP00000269217.5:p.Thr1122=
NM_000227.4:c.3366G>C NP_000218.3:p.Thr1122=
NM_000227.5:c.3366G>C NP_000218.3:p.Thr1122=
NM_001127717.2:c.8025G>C NP_001121189.2:p.Thr2675=
NM_001127717.3:c.8025G>C NP_001121189.2:p.Thr2675=
NM_001127717.4:c.8025G>C NP_001121189.2:p.Thr2675=
NM_001127718.2:c.3198G>C NP_001121190.2:p.Thr1066=
NM_001127718.3:c.3198G>C NP_001121190.2:p.Thr1066=
NM_001127718.4:c.3198G>C NP_001121190.2:p.Thr1066=
NM_198129.2:c.8193G>C NP_937762.2:p.Thr2731=
NM_198129.3:c.8193G>C NP_937762.2:p.Thr2731=
ENST00000269217.10:c.3366G>C ENSP00000269217.5:p.Thr1122=
ENST00000313654.13:c.8193G>C ENSP00000324532.8:p.Thr2731=
ENST00000399516.7:c.8025G>C ENSP00000382432.2:p.Thr2675=
ENST00000586751.5:c.2971G>C
ENST00000587184.5:c.3198G>C ENSP00000466557.1:p.Thr1066=
ENST00000588770.5:n.2771G>C
ENST00000649721.1:c.4788G>C ENSP00000497885.1:p.Thr1596=
XM_011525978.1:c.8220G>C XP_011524280.1:p.Thr2740=
XM_011525978.2:c.8220G>C XP_011524280.1:p.Thr2740=
XM_011525979.1:c.8211G>C XP_011524281.1:p.Thr2737=
XM_011525979.2:c.8211G>C XP_011524281.1:p.Thr2737=
XM_011525980.1:c.8202G>C XP_011524282.1:p.Thr2734=
XM_011525980.2:c.8202G>C XP_011524282.1:p.Thr2734=
XM_011525981.1:c.8088G>C XP_011524283.1:p.Thr2696=
XM_011525981.2:c.8088G>C XP_011524283.1:p.Thr2696=
XM_011525982.1:c.7923G>C XP_011524284.1:p.Thr2641=
XM_011525982.2:c.7923G>C XP_011524284.1:p.Thr2641=
XM_017025743.1:c.6072G>C XP_016881232.1:p.Thr2024=
XM_017025744.1:c.3762G>C XP_016881233.1:p.Thr1254=
XR_001753199.1:n.8461G>C