Canonical Allele Identifier: CA628678321

Gene: LAMA3

Linked Data

• dbSNP Id: rs564625729
• gnomAD v2: 18-21444866-C-A
• gnomAD v4: 18-23864902-C-A
• MyVariant Identifiers: chr18:g.21444866C>A (hg19) ; chr18:g.23864902C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23864902C>A , CM000680.2:g.23864902C>A	GRCh38
NC_000018.9:g.21444866C>A , CM000680.1:g.21444866C>A	GRCh37
NC_000018.8:g.19698864C>A	NCBI36
NG_007853.2:g.180305C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313654.14:c.4683+19C>A MANE Select	ENSP00000324532.8:n.4683+19C>A
ENST00000649721.1:c.1575+19C>A	ENSP00000497885.1:n.1575+19C>A
ENST00000313654.13:c.4683+19C>A	ENSP00000324532.8:n.4683+19C>A
ENST00000399516.7:c.4683+19C>A	ENSP00000382432.2:n.4683+19C>A
NM_001127717.2:c.4683+19C>A	NP_001121189.2:n.4683+19C>A
NM_198129.2:c.4683+19C>A	NP_937762.2:n.4683+19C>A
XM_011525978.1:c.4710+19C>A	XP_011524280.1:n.4710+19C>A
XM_011525979.1:c.4701+19C>A	XP_011524281.1:n.4701+19C>A
XM_011525980.1:c.4692+19C>A	XP_011524282.1:n.4692+19C>A
XM_011525981.1:c.4578+19C>A	XP_011524283.1:n.4578+19C>A
XM_011525982.1:c.4710+19C>A	XP_011524284.1:n.4710+19C>A
XM_011525978.2:c.4710+19C>A	XP_011524280.1:n.4710+19C>A
XM_011525979.2:c.4701+19C>A	XP_011524281.1:n.4701+19C>A
XM_011525980.2:c.4692+19C>A	XP_011524282.1:n.4692+19C>A
XM_011525981.2:c.4578+19C>A	XP_011524283.1:n.4578+19C>A
XM_011525982.2:c.4710+19C>A	XP_011524284.1:n.4710+19C>A
XM_017025743.1:c.2562+19C>A	XP_016881232.1:n.2562+19C>A
XM_017025744.1:c.252+19C>A	XP_016881233.1:n.252+19C>A
XR_001753199.1:n.4951+19C>A
NM_001127717.3:c.4683+19C>A	NP_001121189.2:n.4683+19C>A
NM_198129.3:c.4683+19C>A	NP_937762.2:n.4683+19C>A
NM_001127717.4:c.4683+19C>A	NP_001121189.2:n.4683+19C>A
NM_198129.4:c.4683+19C>A MANE Select	NP_937762.2:n.4683+19C>A