Canonical Allele Identifier: CA503336602

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23905569-C-T
• MyVariant Identifiers: chr18:g.21485533C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905569C>T , CM000680.2:g.23905569C>T	GRCh38
NC_000018.9:g.21485533C>T , CM000680.1:g.21485533C>T	GRCh37
NC_000018.8:g.19739531C>T	NCBI36
NG_007853.2:g.220972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1836C>T MANE Plus Clinical	ENSP00000269217.5:p.Ser612=
ENST00000313654.14:c.6663C>T MANE Select	ENSP00000324532.8:p.Ser2221=
ENST00000649721.1:c.3555C>T	ENSP00000497885.1:p.Ser1185=
ENST00000269217.10:c.1836C>T	ENSP00000269217.5:p.Ser612=
ENST00000313654.13:c.6663C>T	ENSP00000324532.8:p.Ser2221=
ENST00000399516.7:c.6495C>T	ENSP00000382432.2:p.Ser2165=
ENST00000586751.5:c.1441C>T
ENST00000587184.5:c.1668C>T	ENSP00000466557.1:p.Ser556=
ENST00000588770.5:n.1241C>T
NM_000227.4:c.1836C>T	NP_000218.3:p.Ser612=
NM_001127717.2:c.6495C>T	NP_001121189.2:p.Ser2165=
NM_001127718.2:c.1668C>T	NP_001121190.2:p.Ser556=
NM_198129.2:c.6663C>T	NP_937762.2:p.Ser2221=
XM_011525978.1:c.6690C>T	XP_011524280.1:p.Ser2230=
XM_011525979.1:c.6681C>T	XP_011524281.1:p.Ser2227=
XM_011525980.1:c.6672C>T	XP_011524282.1:p.Ser2224=
XM_011525981.1:c.6558C>T	XP_011524283.1:p.Ser2186=
XM_011525982.1:c.6690C>T	XP_011524284.1:p.Ser2230=
XM_011525978.2:c.6690C>T	XP_011524280.1:p.Ser2230=
XM_011525979.2:c.6681C>T	XP_011524281.1:p.Ser2227=
XM_011525980.2:c.6672C>T	XP_011524282.1:p.Ser2224=
XM_011525981.2:c.6558C>T	XP_011524283.1:p.Ser2186=
XM_011525982.2:c.6690C>T	XP_011524284.1:p.Ser2230=
XM_017025743.1:c.4542C>T	XP_016881232.1:p.Ser1514=
XM_017025744.1:c.2232C>T	XP_016881233.1:p.Ser744=
XR_001753199.1:n.6931C>T
NM_000227.5:c.1836C>T	NP_000218.3:p.Ser612=
NM_001127717.3:c.6495C>T	NP_001121189.2:p.Ser2165=
NM_001127718.3:c.1668C>T	NP_001121190.2:p.Ser556=
NM_198129.3:c.6663C>T	NP_937762.2:p.Ser2221=
NM_000227.6:c.1836C>T MANE Plus Clinical	NP_000218.3:p.Ser612=
NM_001127717.4:c.6495C>T	NP_001121189.2:p.Ser2165=
NM_001127718.4:c.1668C>T	NP_001121190.2:p.Ser556=
NM_198129.4:c.6663C>T MANE Select	NP_937762.2:p.Ser2221=