Canonical Allele Identifier: CA1562426
Gene: DRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26453527G>T , CM000664.2:g.26453527G>T GRCh38
NC_000002.11:g.26676395G>T , CM000664.1:g.26676395G>T GRCh37
NC_000002.10:g.26529899G>T NCBI36
NG_042824.1:g.56616G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288710.7:c.1897G>T MANE Select ENSP00000288710.2:p.Val633Phe
ENST00000649059.1:c.1743G>T
ENST00000288710.6:c.1897G>T ENSP00000288710.2:p.Val633Phe
NM_145038.3:c.1897G>T NP_659475.2:p.Val633Phe
NM_145038.4:c.1897G>T NP_659475.2:p.Val633Phe
XM_005264637.3:c.1279G>T XP_005264694.1:p.Val427Phe
XM_005264638.3:c.877G>T XP_005264695.1:p.Val293Phe
XM_017005271.1:c.877G>T XP_016860760.1:p.Val293Phe
XM_024453218.1:c.877G>T XP_024308986.1:p.Val293Phe
NM_145038.5:c.1897G>T MANE Select NP_659475.2:p.Val633Phe