Canonical Allele Identifier: CA385671290

Gene: LEMD3

Linked Data

• dbSNP Id: rs1592462352
• MyVariant Identifiers: chr12:g.65632556T>C (hg19) ; chr12:g.65238776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65238776T>C , CM000674.2:g.65238776T>C	GRCh38
NC_000012.11:g.65632556T>C , CM000674.1:g.65632556T>C	GRCh37
NC_000012.10:g.63918823T>C	NCBI36
NG_016210.1:g.74206T>C
NG_016210.2:g.74206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.1883T>C MANE Select	ENSP00000308369.2:p.Phe628Ser
ENST00000308330.2:c.1883T>C	ENSP00000308369.2:p.Phe628Ser
NM_001167614.1:c.1880T>C	NP_001161086.1:p.Phe627Ser
NM_014319.4:c.1883T>C	NP_055134.2:p.Phe628Ser
NM_014319.5:c.1883T>C MANE Select	NP_055134.2:p.Phe628Ser
NM_001167614.2:c.1880T>C	NP_001161086.1:p.Phe627Ser