Canonical Allele Identifier: CA369634357

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142961359C>G , CM000669.2:g.142961359C>G	GRCh38
NC_000007.13:g.142658446C>G , CM000669.1:g.142658446C>G	GRCh37
NC_000007.12:g.142368568C>G	NCBI36
NG_007492.1:g.6058G>C
NG_007492.2:g.6058G>C
NG_007492.3:g.6058G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000420.3:c.223+1G>C MANE Select	NP_000411.1:n.223+1G>C
ENST00000355265.7:c.223+1G>C MANE Select	ENSP00000347409.2:n.223+1G>C
NM_000420.2:c.223+1G>C	NP_000411.1:n.223+1G>C
ENST00000355265.6:c.223+1G>C	ENSP00000347409.2:n.223+1G>C
ENST00000460479.1:c.254+1G>C
ENST00000460479.2:c.166+1G>C	ENSP00000418886.2:n.166+1G>C
ENST00000467543.5:c.166+1G>C	ENSP00000420011.1:n.166+1G>C
ENST00000467543.6:c.*75+1G>C	ENSP00000420011.2:n.*75+1G>C
ENST00000476829.5:c.223+1G>C	ENSP00000419889.1:n.223+1G>C
ENST00000479768.6:n.341+1G>C
XM_005249993.2:c.259+1G>C	XP_005250050.1:n.259+1G>C