Canonical Allele Identifier: CA384797193

Gene: SMARCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50098804T>C , CM000674.2:g.50098804T>C	GRCh38
NC_000012.11:g.50492587T>C , CM000674.1:g.50492587T>C	GRCh37
NC_000012.10:g.48778854T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003076.5:c.1483T>C MANE Select	NP_003067.3:p.Phe495Leu
ENST00000394963.9:c.1483T>C MANE Select	ENSP00000378414.4:p.Phe495Leu
NM_003076.4:c.1483T>C	NP_003067.3:p.Phe495Leu
NM_139071.2:c.1360T>C	NP_620710.2:p.Phe454Leu
NM_139071.3:c.1360T>C	NP_620710.2:p.Phe454Leu
ENST00000381513.8:c.1360T>C	ENSP00000370924.4:p.Phe454Leu
ENST00000394963.8:c.1483T>C	ENSP00000378414.4:p.Phe495Leu
ENST00000548573.5:c.877T>C	ENSP00000448627.1:p.Phe293Leu
ENST00000549274.1:c.281T>C
ENST00000550280.1:n.405T>C
ENST00000551352.1:n.310T>C
XM_005269107.3:c.1360T>C	XP_005269164.2:p.Phe454Leu
XM_005269107.4:c.1360T>C	XP_005269164.2:p.Phe454Leu
XR_944683.1:n.1653T>C
XR_944683.2:n.1617T>C
XR_944684.1:n.1653T>C
XR_944684.2:n.1617T>C