Canonical Allele Identifier: CA346123054

Gene: DRC1

Linked Data

• MyVariant Identifiers: chr2:g.26678009A>T (hg19) ; chr2:g.26455141A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26455141A>T , CM000664.2:g.26455141A>T	GRCh38
NC_000002.11:g.26678009A>T , CM000664.1:g.26678009A>T	GRCh37
NC_000002.10:g.26531513A>T	NCBI36
NG_042824.1:g.58230A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288710.7:c.2074A>T MANE Select	ENSP00000288710.2:p.Thr692Ser
ENST00000649059.1:c.1920A>T
ENST00000288710.6:c.2074A>T	ENSP00000288710.2:p.Thr692Ser
NM_145038.3:c.2074A>T	NP_659475.2:p.Thr692Ser
NM_145038.4:c.2074A>T	NP_659475.2:p.Thr692Ser
XM_005264637.3:c.1456A>T	XP_005264694.1:p.Thr486Ser
XM_005264638.3:c.1054A>T	XP_005264695.1:p.Thr352Ser
XM_017005271.1:c.1054A>T	XP_016860760.1:p.Thr352Ser
XM_024453218.1:c.1054A>T	XP_024308986.1:p.Thr352Ser
NM_145038.5:c.2074A>T MANE Select	NP_659475.2:p.Thr692Ser