Canonical Allele Identifier: CA297440835

Gene: LAMA3

Linked Data

• dbSNP Id: rs924332729
• gnomAD v2: 18-21365871-T-C
• gnomAD v3: 18-23785907-T-C
• gnomAD v4: 18-23785907-T-C
• MyVariant Identifiers: chr18:g.21365871T>C (hg19) ; chr18:g.23785907T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23785907T>C , CM000680.2:g.23785907T>C	GRCh38
NC_000018.9:g.21365871T>C , CM000680.1:g.21365871T>C	GRCh37
NC_000018.8:g.19619869T>C	NCBI36
NG_007853.2:g.101310T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313654.14:c.1603+1750T>C MANE Select	ENSP00000324532.8:n.1603+1750T>C
ENST00000313654.13:c.1603+1750T>C	ENSP00000324532.8:n.1603+1750T>C
ENST00000399516.7:c.1603+1750T>C	ENSP00000382432.2:n.1603+1750T>C
ENST00000585600.5:c.1603+1750T>C	ENSP00000468316.1:n.1603+1750T>C
NM_001127717.2:c.1603+1750T>C	NP_001121189.2:n.1603+1750T>C
NM_198129.2:c.1603+1750T>C	NP_937762.2:n.1603+1750T>C
NR_130106.1:n.1844+1750T>C
XM_011525978.1:c.1603+1750T>C	XP_011524280.1:n.1603+1750T>C
XM_011525979.1:c.1603+1750T>C	XP_011524281.1:n.1603+1750T>C
XM_011525980.1:c.1603+1750T>C	XP_011524282.1:n.1603+1750T>C
XM_011525981.1:c.1471+1750T>C	XP_011524283.1:n.1471+1750T>C
XM_011525982.1:c.1603+1750T>C	XP_011524284.1:n.1603+1750T>C
XM_011525978.2:c.1603+1750T>C	XP_011524280.1:n.1603+1750T>C
XM_011525979.2:c.1603+1750T>C	XP_011524281.1:n.1603+1750T>C
XM_011525980.2:c.1603+1750T>C	XP_011524282.1:n.1603+1750T>C
XM_011525981.2:c.1471+1750T>C	XP_011524283.1:n.1471+1750T>C
XM_011525982.2:c.1603+1750T>C	XP_011524284.1:n.1603+1750T>C
XR_001753199.1:n.1844+1750T>C
NM_001127717.3:c.1603+1750T>C	NP_001121189.2:n.1603+1750T>C
NM_198129.3:c.1603+1750T>C	NP_937762.2:n.1603+1750T>C
NR_130106.2:n.1834+1750T>C
NM_001127717.4:c.1603+1750T>C	NP_001121189.2:n.1603+1750T>C
NM_198129.4:c.1603+1750T>C MANE Select	NP_937762.2:n.1603+1750T>C