Canonical Allele Identifier: CA360626084

Gene: MCC

Linked Data

• gnomAD v4: 5-113064020-T-G
• MyVariant Identifiers: chr5:g.112399717T>G (hg19) ; chr5:g.113064020T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064020T>G , CM000667.2:g.113064020T>G	GRCh38
NC_000005.9:g.112399717T>G , CM000667.1:g.112399717T>G	GRCh37
NC_000005.8:g.112427616T>G	NCBI36
NG_012265.1:g.429811A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302475.9:c.1607A>C	ENSP00000305617.4:p.Gln536Pro
ENST00000408903.7:c.2177A>C MANE Select	ENSP00000386227.3:p.Gln726Pro
ENST00000302475.8:c.1607A>C	ENSP00000305617.4:p.Gln536Pro
ENST00000408903.6:c.2177A>C	ENSP00000386227.3:p.Gln726Pro
ENST00000514701.5:c.1607A>C	ENSP00000485220.1:p.Gln536Pro
ENST00000515367.6:c.1418A>C	ENSP00000421615.2:p.Gln473Pro
ENST00000624689.3:c.21A>C
NM_001085377.1:c.2177A>C	NP_001078846.1:p.Gln726Pro
NM_002387.2:c.1607A>C	NP_002378.1:p.Gln536Pro
XM_005271991.2:c.1607A>C	XP_005272048.1:p.Gln536Pro
XM_005271991.3:c.1607A>C	XP_005272048.1:p.Gln536Pro
XM_017009473.1:c.2177A>C	XP_016864962.1:p.Gln726Pro
XM_017009474.1:c.1577A>C	XP_016864963.1:p.Gln526Pro
XM_024446049.1:c.1418A>C	XP_024301817.1:p.Gln473Pro
XM_024446050.1:c.1418A>C	XP_024301818.1:p.Gln473Pro
XM_024446051.1:c.1418A>C	XP_024301819.1:p.Gln473Pro
XM_024446052.1:c.1418A>C	XP_024301820.1:p.Gln473Pro
NM_001085377.2:c.2177A>C MANE Select	NP_001078846.2:p.Gln726Pro
NM_002387.3:c.1607A>C	NP_002378.2:p.Gln536Pro