Canonical Allele Identifier: CA385101977

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54028781G>C , CM000674.2:g.54028781G>C GRCh38
NC_000012.11:g.54422565G>C , CM000674.1:g.54422565G>C GRCh37
NC_000012.10:g.52708832G>C NCBI36
NG_029818.1:g.16924G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243108.5:c.260G>C (HOXC6) MANE Select ENSP00000243108.4:p.Cys87Ser
ENST00000243108.4:c.260G>C (HOXC6) ENSP00000243108.4:p.Cys87Ser
ENST00000303406.4:c.-124+11367G>C (HOXC4) ENSP00000305973.4:n.-124+11367G>C
ENST00000394331.3:c.14G>C (HOXC6) ENSP00000377864.3:p.Cys5Ser
ENST00000504315.1:c.14G>C (HOXC6) ENSP00000424124.1:p.Cys5Ser
ENST00000509328.1:c.14G>C (HOXC6) ENSP00000423898.1:p.Cys5Ser
ENST00000513209.1:c.167-5497G>C ENSP00000476742.1:n.167-5497G>C
NM_004503.3:c.260G>C (HOXC6) NP_004494.1:p.Cys87Ser
NM_014620.5:c.-124+11367G>C (HOXC4) NP_055435.2:n.-124+11367G>C
NM_153693.4:c.14G>C (HOXC6) NP_710160.1:p.Cys5Ser
NR_003084.2:n.564-5497G>C (HOXC5)
NM_004503.4:c.260G>C (HOXC6) MANE Select NP_004494.1:p.Cys87Ser
NM_014620.6:c.-124+11367G>C (HOXC4) NP_055435.2:n.-124+11367G>C
NM_153693.5:c.14G>C (HOXC6) NP_710160.1:p.Cys5Ser
NR_003084.3:n.528-5497G>C (HOXC5)