Canonical Allele Identifier: CA8915594

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23858818C>T , CM000680.2:g.23858818C>T	GRCh38
NC_000018.9:g.21438782C>T , CM000680.1:g.21438782C>T	GRCh37
NC_000018.8:g.19692780C>T	NCBI36
NG_007853.2:g.174221C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.4411C>T MANE Select	NP_937762.2:p.Arg1471Ter
ENST00000313654.14:c.4411C>T MANE Select	ENSP00000324532.8:p.Arg1471Ter
NM_001127717.2:c.4411C>T	NP_001121189.2:p.Arg1471Ter
NM_001127717.3:c.4411C>T	NP_001121189.2:p.Arg1471Ter
NM_001127717.4:c.4411C>T	NP_001121189.2:p.Arg1471Ter
NM_198129.2:c.4411C>T	NP_937762.2:p.Arg1471Ter
NM_198129.3:c.4411C>T	NP_937762.2:p.Arg1471Ter
ENST00000313654.13:c.4411C>T	ENSP00000324532.8:p.Arg1471Ter
ENST00000399516.7:c.4411C>T	ENSP00000382432.2:p.Arg1471Ter
ENST00000649721.1:c.1303C>T	ENSP00000497885.1:p.Arg435Ter
XM_011525978.1:c.4438C>T	XP_011524280.1:p.Arg1480Ter
XM_011525978.2:c.4438C>T	XP_011524280.1:p.Arg1480Ter
XM_011525979.1:c.4429C>T	XP_011524281.1:p.Arg1477Ter
XM_011525979.2:c.4429C>T	XP_011524281.1:p.Arg1477Ter
XM_011525980.1:c.4420C>T	XP_011524282.1:p.Arg1474Ter
XM_011525980.2:c.4420C>T	XP_011524282.1:p.Arg1474Ter
XM_011525981.1:c.4306C>T	XP_011524283.1:p.Arg1436Ter
XM_011525981.2:c.4306C>T	XP_011524283.1:p.Arg1436Ter
XM_011525982.1:c.4438C>T	XP_011524284.1:p.Arg1480Ter
XM_011525982.2:c.4438C>T	XP_011524284.1:p.Arg1480Ter
XM_017025743.1:c.2290C>T	XP_016881232.1:p.Arg764Ter
XM_017025744.1:c.-21C>T	XP_016881233.1:n.-21C>T
XR_001753199.1:n.4679C>T