Canonical Allele Identifier: CA402046944

Gene: LAMA3

Linked Data

• dbSNP Id: rs1487670704
• gnomAD v3: 18-23898982-C-T
• gnomAD v4: 18-23898982-C-T
• MyVariant Identifiers: chr18:g.21478946C>T (hg19) ; chr18:g.23898982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23898982C>T , CM000680.2:g.23898982C>T	GRCh38
NC_000018.9:g.21478946C>T , CM000680.1:g.21478946C>T	GRCh37
NC_000018.8:g.19732944C>T	NCBI36
NG_007853.2:g.214385C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.926C>T MANE Plus Clinical	ENSP00000269217.5:p.Thr309Ile
ENST00000313654.14:c.5753C>T MANE Select	ENSP00000324532.8:p.Thr1918Ile
ENST00000649721.1:c.2645C>T	ENSP00000497885.1:p.Thr882Ile
ENST00000269217.10:c.926C>T	ENSP00000269217.5:p.Thr309Ile
ENST00000313654.13:c.5753C>T	ENSP00000324532.8:p.Thr1918Ile
ENST00000399516.7:c.5753C>T	ENSP00000382432.2:p.Thr1918Ile
ENST00000586709.1:n.141C>T
ENST00000586751.5:c.531C>T
ENST00000587184.5:c.926C>T	ENSP00000466557.1:p.Thr309Ile
ENST00000588770.5:n.331C>T
NM_000227.4:c.926C>T	NP_000218.3:p.Thr309Ile
NM_001127717.2:c.5753C>T	NP_001121189.2:p.Thr1918Ile
NM_001127718.2:c.926C>T	NP_001121190.2:p.Thr309Ile
NM_198129.2:c.5753C>T	NP_937762.2:p.Thr1918Ile
XM_011525978.1:c.5780C>T	XP_011524280.1:p.Thr1927Ile
XM_011525979.1:c.5771C>T	XP_011524281.1:p.Thr1924Ile
XM_011525980.1:c.5762C>T	XP_011524282.1:p.Thr1921Ile
XM_011525981.1:c.5648C>T	XP_011524283.1:p.Thr1883Ile
XM_011525982.1:c.5780C>T	XP_011524284.1:p.Thr1927Ile
XM_011525978.2:c.5780C>T	XP_011524280.1:p.Thr1927Ile
XM_011525979.2:c.5771C>T	XP_011524281.1:p.Thr1924Ile
XM_011525980.2:c.5762C>T	XP_011524282.1:p.Thr1921Ile
XM_011525981.2:c.5648C>T	XP_011524283.1:p.Thr1883Ile
XM_011525982.2:c.5780C>T	XP_011524284.1:p.Thr1927Ile
XM_017025743.1:c.3632C>T	XP_016881232.1:p.Thr1211Ile
XM_017025744.1:c.1322C>T	XP_016881233.1:p.Thr441Ile
XR_001753199.1:n.6021C>T
NM_000227.5:c.926C>T	NP_000218.3:p.Thr309Ile
NM_001127717.3:c.5753C>T	NP_001121189.2:p.Thr1918Ile
NM_001127718.3:c.926C>T	NP_001121190.2:p.Thr309Ile
NM_198129.3:c.5753C>T	NP_937762.2:p.Thr1918Ile
NM_000227.6:c.926C>T MANE Plus Clinical	NP_000218.3:p.Thr309Ile
NM_001127717.4:c.5753C>T	NP_001121189.2:p.Thr1918Ile
NM_001127718.4:c.926C>T	NP_001121190.2:p.Thr309Ile
NM_198129.4:c.5753C>T MANE Select	NP_937762.2:p.Thr1918Ile