Canonical Allele Identifier: CA384797045

Gene: SMARCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50098778G>A , CM000674.2:g.50098778G>A	GRCh38
NC_000012.11:g.50492561G>A , CM000674.1:g.50492561G>A	GRCh37
NC_000012.10:g.48778828G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003076.5:c.1457G>A MANE Select	NP_003067.3:p.Trp486Ter
ENST00000394963.9:c.1457G>A MANE Select	ENSP00000378414.4:p.Trp486Ter
NM_003076.4:c.1457G>A	NP_003067.3:p.Trp486Ter
NM_139071.2:c.1334G>A	NP_620710.2:p.Trp445Ter
NM_139071.3:c.1334G>A	NP_620710.2:p.Trp445Ter
ENST00000381513.8:c.1334G>A	ENSP00000370924.4:p.Trp445Ter
ENST00000394963.8:c.1457G>A	ENSP00000378414.4:p.Trp486Ter
ENST00000548573.5:c.851G>A	ENSP00000448627.1:p.Trp284Ter
ENST00000549274.1:c.255G>A
ENST00000550280.1:n.379G>A
ENST00000551352.1:n.284G>A
XM_005269107.3:c.1334G>A	XP_005269164.2:p.Trp445Ter
XM_005269107.4:c.1334G>A	XP_005269164.2:p.Trp445Ter
XR_944683.1:n.1627G>A
XR_944683.2:n.1591G>A
XR_944684.1:n.1627G>A
XR_944684.2:n.1591G>A