Canonical Allele Identifier: CA503522815

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23950075-C-T
• MyVariant Identifiers: chr18:g.21530039C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23950075C>T , CM000680.2:g.23950075C>T	GRCh38
NC_000018.9:g.21530039C>T , CM000680.1:g.21530039C>T	GRCh37
NC_000018.8:g.19784037C>T	NCBI36
NG_007853.2:g.265478C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.4731C>T MANE Plus Clinical	ENSP00000269217.5:p.Ile1577=
ENST00000313654.14:c.9558C>T MANE Select	ENSP00000324532.8:p.Ile3186=
ENST00000649721.1:c.6153C>T	ENSP00000497885.1:p.Ile2051=
ENST00000269217.10:c.4731C>T	ENSP00000269217.5:p.Ile1577=
ENST00000313654.13:c.9558C>T	ENSP00000324532.8:p.Ile3186=
ENST00000399516.7:c.9390C>T	ENSP00000382432.2:p.Ile3130=
ENST00000587184.5:c.4563C>T	ENSP00000466557.1:p.Ile1521=
ENST00000588004.1:c.79C>T
ENST00000588770.5:n.4136C>T
NM_000227.4:c.4731C>T	NP_000218.3:p.Ile1577=
NM_001127717.2:c.9390C>T	NP_001121189.2:p.Ile3130=
NM_001127718.2:c.4563C>T	NP_001121190.2:p.Ile1521=
NM_198129.2:c.9558C>T	NP_937762.2:p.Ile3186=
XM_011525978.1:c.9585C>T	XP_011524280.1:p.Ile3195=
XM_011525979.1:c.9576C>T	XP_011524281.1:p.Ile3192=
XM_011525980.1:c.9567C>T	XP_011524282.1:p.Ile3189=
XM_011525981.1:c.9453C>T	XP_011524283.1:p.Ile3151=
XM_011525982.1:c.9288C>T	XP_011524284.1:p.Ile3096=
XM_011525978.2:c.9585C>T	XP_011524280.1:p.Ile3195=
XM_011525979.2:c.9576C>T	XP_011524281.1:p.Ile3192=
XM_011525980.2:c.9567C>T	XP_011524282.1:p.Ile3189=
XM_011525981.2:c.9453C>T	XP_011524283.1:p.Ile3151=
XM_011525982.2:c.9288C>T	XP_011524284.1:p.Ile3096=
XM_017025743.1:c.7437C>T	XP_016881232.1:p.Ile2479=
XM_017025744.1:c.5127C>T	XP_016881233.1:p.Ile1709=
XR_001753199.1:n.9826C>T
NM_000227.5:c.4731C>T	NP_000218.3:p.Ile1577=
NM_001127717.3:c.9390C>T	NP_001121189.2:p.Ile3130=
NM_001127718.3:c.4563C>T	NP_001121190.2:p.Ile1521=
NM_198129.3:c.9558C>T	NP_937762.2:p.Ile3186=
NM_000227.6:c.4731C>T MANE Plus Clinical	NP_000218.3:p.Ile1577=
NM_001127717.4:c.9390C>T	NP_001121189.2:p.Ile3130=
NM_001127718.4:c.4563C>T	NP_001121190.2:p.Ile1521=
NM_198129.4:c.9558C>T MANE Select	NP_937762.2:p.Ile3186=